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Adopting infants with health issues (1)
Asymmetric crying facies (1)
Chromosome deletion (1)
Congenital heart defects (CHD) (4)
Cystic hygroma (1)
Encephalocele (1)
Holt-Oram (1)
Intestinal malrotation (1)
Miscellaneous/Unclear Diagnosis (167)
Wrinkled skin over fingers (1)
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Showing 179 questions
Displaying: All questions - use the list above to filter results.
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Hello my son has cerebral palsey due to pvl and my husband brother had a daughter who died at 3 days old due to a genetic disorder which caused her organs to all be misplaced and she had an extra igit on one of her hands. My daughter was also born with fused labia which was never tested for cah but i queried at the time. We have now discovered that my husbands other brother has had a little boy who they now think could have cdls syndrome. Now i would like to know if all of these could be linked genetically as i find it strange that all three brothers have had children with problems related to genetics. Is it worth me investigating or is it not possible for them to be linked and is just very bad luck. View Answer |
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My daughter who is 16 just delivered a 5pound 13ounce baby boy at 37 weeks gestation with a split thumb on the left hand and low set ears. We just found out he also has a VSD. All other tests have been normal. We have sent tests for chromosomal testing.do you know which genetic disorders they are looking for and what these conditions mean for his future. He is now 48hours old and remains on the vent despite aggressive weaning attempts. View Answer |
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2009-11-15 |
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I was diagnosed with autoimmune hypothyroidism at week 10 of pregnancy. At 28 weeks ultrasound showed polyhydramnios my daughter had one kidney. At 32 weeks she was delivered because of reduced fetal movement and poor biophysical profile. ultrasound of her head showed grade 3 IVH with a small region of grade 4. She had hydronephrosis in her one kidney, a heart murmur (echocardiogram was normal), ROP, umbilical hernia, reflux, and aspirated into her lungs during oral feedings and was on an NG tube for 5 months. We notice curvature to her spine, long fingers, legs and arms, high arched palate, large head, and thin body. When she breathes hard her chest retracts. Chromosome analysis was normal. She is now 6 months old and has overcome the ROP, hydronephrosis, and did not require a shunt for the IVH, but is still is at risk for aspiration and oral feedings are difficult. Her motor skills are solid for 3-5 months and cognitive/social skills are 6-7 months. Could she have a syndrome? View Answer |
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2009-11-11 |
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Can mitochondrial disease be detected by a Chromosome analysis by high resolution genome-wide SNP? The reason I ask is because we are going down the Mitochondrial route. We also had metabolic testing including:
ammonia
chemistry panel
lactate/pyruvate
Plasma amnio acids, quantitative
Plasma carnitine(total, free, acyl-carnitine)
T3
T4
TSH
Von Willebrand(had done in 2006 for her easy bruising and everything was normal but they wanted to run it again).
Right now we have more questions than answers to alot of things. Our current genetic team has left us at a stand still with no recommendations. View Answer |
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2009-11-07 |
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My daughter now 19 is having new symptoms yearly
diagnosed at birth with Atrial Septal Defect
had a convulsion at age 2
wide set eyes that droop down, flat nose between eyes
Broken femur age 11
Scoliosis age 12 35degree
Oligodendroglioma stage2 age 15
Moles that are just appearing
broken jaw after getting wisdom teeth out
small jaw hard of hearing
Deletion of chromosome 1p 19q but has not been tested for any other chromosome disorder.
I was exposed to unknowing exposed to uranium while pregnant
Not one Dr. has recommended genetic testing. Does she have a syndrome? Do we need testing? Whats happening? View Answer |
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2009-11-05 |
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Hi. my son was born with major heart defects....he had aortic stenosis and interuppted aortic arch, his skull also didnt form all the way, the skull formed in the front and in the back of his head but the middle was open, he had a thin layer of membrane but his brain was visible,his fingers on his right side were abnormal and his toes were also abnormal, and he was also born with a spine that didnt fuse correctly. A geneticist went the hospital to see him and thought that he had Adams oliver, we all thought that because everything that he had fit the profile. It seems that after running the test for adams oliver or DiGeorge syndrome and also checked his chromosomes....everything came out normal. My question is ....if his blood test came out normal then what could have caused all of his problems?My son was born Sept 30 and passed away oct 8th 2009, I would like to have another baby but Im afraid that this will happen again. Any info would be greatly appreciated. Thankyou View Answer |
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2009-10-29 |
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My son is 11 months old. He has had an av canal repair done, g tube insertion, and fundoplication. Most recently he has had strokes on both sides of his brain. He had a seizure about a week ago while in the hospital. He has colomobomas in both eyes. He produces copious amount of mucus (worse during feeding). We have to suction constantly. He had a micro array done some months ago and it was normal. What could be causing all this? View Answer |
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2009-10-29 |
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My son is 5 months old has a girl trin-she is thriving. At 3 months discovered my son had a milk-protein allergy he is on NEOCATE, two weeks later developed severe REFLEX on Prevacid, now he is always mostly unhappy-cries a lot does not sleep well, low tone and barely can hold his head up, large head wide set eyes, one side of his head is flat, has torticollis, low weight gain (underweight), has a simian crease and was born Jaundice twin also, had scheduled C-section at 37 1/2 weeks, what is wrong with him??? I am concerned. View Answer |
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2009-10-25 |
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My 3 sons have persistent fetal fingertip pads. Youngest was born with Cutis Marmorata, + Heterochromia of Scalp Hair Along the Lines of Blaschko. All 3 complained of sore, grainy eyes, from 2 yrs., + intermittently sore legs. At age of 3 - 5 years, each suddenly developed fever, and the Red Ear Syndrome. Middle son also had elevated liver enzymes. One has burning soles of the feet sometimes; another -- paresthesias of the scalp. Two eldest have regularly had a strong ammonia smell on them when soap and water hit in the bath. When first son developed the Red Ear Syndrome, he also had sudden weight loss, night sweats, thirst, frequent urination, lethargy, and jaundice. Negative for Diabetes. Continued to have lethargy, night sweats and low-grade fevers throughout childhood. Middle son has had gastrointestinal trouble, head pains. Youngest son?s ear turned red again when he got a bug bite; has ulcerated and bled for weeks since. Fabry Disease?
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2009-10-06 |
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My son who is 20 months has been referred to see a geneticist. Some of his features or abnormalities include: wide set eyes, flat wide bridge nose, high palet, curved pinky finger and short stature. I am going crazy trying to research any possible genetic disorders. I am having a hard time narrowing it down. I know its hard without having done any bloodwork. Do you have any specific disorders that fit these abnormalities? What could it possibly be? View Answer |
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2009-10-05 |
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What kind of genetics testing should be done on a four year old child who does not speak, has trouble with walking/balance, developmental delays, otherwise healthy? View Answer |
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2009-09-19 |
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my nephew is 13 years old. he was born with multiple birth defects that nobody has actually given a name to. through our own research, we have found that he seems to fit the criteria for "Charge Syndrome ". we need a diagnosis for additional services for the Board of Education. where in NY can we bring him to finally get a diagnosis? View Answer |
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2009-09-06 |
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Hi, I am wondering if you could figure out what is wrong with me. I was born not breathing and had scar tissuse on my brain causing seizures till I was four. I am a female who has always been the size of a male, musculature and hiegh. I am basically built like a bear. I am more aggressive then the other girls. I also have a learning disability and was born a "floppy baby". I am also waaay too flexible, I can bend my wrists in ways that should break them. I have never felt female in all my life. Could this be a genetic disease? View Answer |
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2009-08-23 |
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My granddaughter,2, was born with an extra little finger on each hand, and an extra little toe on each foot. These were removed surgically. Her back was also long, and her head,large. In infancy, she had trouble feeding, threw up a lot, and had serial, chronic ear infections, she now has grommets, infections have stopped. From infancy, she also instantly fell asleep and slept through the night. Her hair remains very fine; her eyelashes, however, are thick and dark.She is now walking and talking; could having four extra digits and other symptoms be just a fluke and she is otherwise absolutely healthy? If there is a genetic condition, what is it likely to be? Thank you. View Answer |
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2009-08-18 |
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Okay I will try to make this short. I am a 32 year old woman with one living male child of 9 years old. I have had 2 previous pregnancies both were terminated due to defects. The first was diagnosed as Limb Body wall defect the second as OI type 2. I would love to have another child but am scared number one but my main concern is my living son. He seems fine but was diagnosed about 2 years ago with having a stroke while in the womb. We took him because he has always favored his left hand, it was initially diagnosed as breakial plexis but a neurologist diagnosed it as infantile ....something to do with the stroke. I have had a lot of bad luck and am worried about my son. My first child was with a different father but the second and my son are with the same father. Thank you so much for your time. View Answer |
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2009-08-12 |
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My 14 month old daughter has had a couple of medical conditions and I'm trying to find out if they could be linked or if there is something I should be aware of. She was born with a duodenal stenosis of 1mm. and at 8 months of age had a duodeno-jejunostomy and a tapering duodenoplasty. She's having trouble processing sugars - i.e. fruits & lactose. I'm told the sugar malabsorption is unrelated to the congenital defect of her intestine but she's too young for the tests to determine the cause. She also presented with a hypopigmented line down her leg at 6 months of age. At 13 months another one began on her chest running down to her navel. They are a progressive loss of pigment and the dermatologist says they could be hypomelanosis of ito. In researching this diagnosis I'm finding it is caused by chromosomal mosaicism. My daughter is developmentally normal & healthy other than these issues. Am I holding pieces of a puzzle or am I overly concerned?
Thank you for your advice.
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2009-07-31 |
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searching for an answer, son born with abnormal facial features (spaces eyes, large forehead, prominent forehead veins, low set normal ears) single palmar crease, small penis, borderline low thyroid (hypo). metatarasal adduction bilaterally right foot. capillary hemangioma at 1 month, severe obstructive sleep apnea 8 months, slight kyphosis 8 months. mri of brain and heart 4 months and 12 months = normal. genetic testing birth and 9 months = normal. low muscle tone in trunk normal to slightly high in extremities. developmental delay mostly in gross, but also slight in speech and cogn. teeth coming in small, crooked and spaced. making tremendous progress!! seen genetisist, endo, dev. peds., ortho, cardio, plastics, uroligy,E.I since 6 mon. very happy HEALTHY social alert 14 month now.. but still no answers?? born 7.8 21 inches. steady in 5% for weight, 40% for height and 50% for head. View Answer |
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2009-07-14 |
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My 7 year old son has mild right hemiplasia as well as attention and sensory issues. Per his MRI at age 10 months old, his brain developed assymetrically, forcing him to favor one side of his body. He has been in PT, OT and ST since age 1 and to the casual observor, he would seem 'normal'. However, he is very quirky and needs a lot of support to maintain age-appropriate behavior etc. Could this be a syndrome? He also had maple-syrup smelling urine as an infant. View Answer |
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2009-07-07 |
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I am turning 35 years old this month and I am wanting to have another baby. However, I have a 2 1/2 yr. son that has multiple birth defects and no dx at this time. We have tested for DiGeorges, Opitz, CHARGE, Prader Willie, and Noonens. All this test are normal. His most recent microchromosome array was also normal. I am very concerned about the risks with my age to begin with but with no answers about his condition I am even more concerned. I have been told that he is the 5%of pregnancy's that something could go wrong. Am I at double risk with my age and having a child with this undiagnosed condition. If he is that small % would that make the next one even more at risk or an I just as much at risk as any "normal" 35 yr women? Is there a test I can take to R/O anything? View Answer |
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2009-07-04 |
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My son does not eat food or talk yet. Will he ever eat and talk? View Answer |
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2009-06-23 |
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12 weeks before L was born, her mum was told that the baby she was carrying had a chromosome defect...and it was possible Down syndrome. L was brought on by induction on 17th July...and was born by normal delivery on 18th July. A chromosome test was taken and we were told she wasn?t Down Syndrome, but told that there was a problem...they thought she had Edwards Syndrome and was put into intensive care, her blood sugars were down, and she wasn?t feeding....J was told to look at her little girl and to say what abnormal features she could see in her...as my daughter was only 25 herself and this was her first baby she wasn?t aware of any. L's little hands were clawed and the thumb and first finger on each of her hands were bent horizontally across the palms of each hand. She was told she had rocker foot, a high arched palette, and low set ears, wide spread eyes, subcutaneous folds of skin, a webbed neck, and a small mouth with an upturned nose.
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2009-06-11 |
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i gave birth to three children 1st a girl had a very bad sendroym and past away.my 2nd a boy developmentaly delayed he is 7 at a 1year old level and my youngest agirl born with a cleft lip palate but perfectly health other wise.ive seen genetic doctors and have gotten no were what should be my next step be?and if i want a nother child what should i do?is there a test i should take? View Answer |
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2009-06-09 |
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My daughter has had the following diagnosis: bilateral hydronephrosis, vascular ring, small PDA, right sided aortic arch with mirror image branching, reflux, malrotation of the bowels, exzema, a Kommerell's diverticulum, trancheomalacia, and a hemangioma. She is only 7 months old and just had surgery for the vascular ring, diverticulum, and malrotation of the bowels, and she also had an aortopexy and appendectomy. We will be seeing a geneticist, but it is an 8 month wait. What syndromes encompass these conditions? Is 22q11 deletion a good probability? What should I expect for genetic testing (blood work, etc.)? View Answer |
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2009-05-10 |
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My baby girl was born full term with no pregnancy problems and has the following symptoms: bilateral congenital cataract, horizontal and vertical nystagmus, milk/soy protein intolerance manifesting with bloody stools, severe reflux/GERD, constipation, kyphosis of spine, central sleep apnea (resolving), minor dysmorphic features such as hypertelorism, short nose and frontal bossing in forehead, clinodactyly, etc. Her chromosomes are normal, her brain MRI was normal, and her growth has been normal. Developmentally she has been on track. Are you aware of a syndrome/condition that can explain her symptoms? View Answer |
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2009-05-08 |
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My 14 month old son has had 9 seizures since he was 5 months old. All happened at the point of falling asleep or waking. He has crooked teeth with spaces between them. The teeth came in on top first. He has plagiocephaly and torticollis. His tongue sticks out and looks large. He still wakes up about 5 times in the night, and has always slept very little since birth. He has assymetrical eyes and ears (one bigger than the other), and excess hair on his forehead and eyebrows. His skin folds into a line on the back of his neck. He walks with his feet turned outward and legs apart. He had enlarged kidneys before birth and I had bleeding several times throughout the pregnancy. I wonder if some or all of these things could be part of a condition. Do you know of anything this could be?
Also, he has a normal head circumference, weight, and height. View Answer |
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2009-05-07 |
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I have two children, a four year old girl and a two year old boy. I had extensive problems with both pregnancies and they were both born early (1 and 2 months respectively). We had the normal preemie problems, but my daughter also had crazy high fevers (107+), then numerous respiratory and GI issues--pneumonia several times, terrible abdominal pain, chronic wheezing, etc...She is four and has been tested for numerous disorders (CF, Celiac's, Crohn's, etc...) Had her tonsils out last year. They have found a "gap" in her immune system that they have also now found in my son (IGg). Both have differing neurological issues, chronic illness, wheezing, GI, but all tests are normal. We are getting scared and desperate and do not know where to go next for help in determining the underlying cause. Does this sound like a genetics issue? View Answer |
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2009-05-05 |
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My 9 year old son has a combination of characteristics that lead me to think he has an undiagnosed medical condition. He has had many tests, with consensus being diagnoses of PDD-NOS, developmental dyspraxia, action tremor, clonus, hydromyelia, anxiety, and sensory integration dysfunction. He has also been tested for diabetes at age 4 because of protein in his urine during a routine physical, and Wilson's disease because of low copper and ceruloplasma levels during a blood test. He has average intelligence, a large head and ears, very wide hands, a low canthus, and has never been able to burp. He also has a history of constipation and a variety of rashes. Thanks for any help. View Answer |
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2009-04-20 |
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My daughter had a lot of the symptons related to prader willi syndrome, when she was born she had very poor muscle tone, she was over a year old before she could hold her head up, roll over, sit up alone. She also was hard to feed, we had to make the bottle holes larger in order for her to get the milk out since she could not suck good which made her throw up a lot during feeing times (reflux) and we would have to constantly wake her up to eat. We took her for genetic testing but nothing was found and just recommended therapy which we got for speech and physical. Everything seemed fine until here recently within the last year and she has started to become obcessed with food, I asked her what she thought about and all she says is that she is hungary all the time and I asked how she knew that and she said because her brain tells her she is hungary. She has become fascinated with food, could she have Prader Willi Syndrome?
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2009-04-09 |
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Hello,
I was born with 3 kidneys, no tonsils, a right sided aorta, and I have 4 bronchi in my right lung.
I am 44 years old and have developed joint pain, fatigue, kidney stones, and severe allergies since the age of 42. I have been under the care of a pulmonologist who performed a broncoscopy on me due to a CT scan showing an enlarged lymph node. I was told the lymph node is fine. I have 4 bronchi in my right lung and my trachea is very narrow and longer than it should be.
My mother is a twin and she also has 3 kidneys. In her 40's she started to develop these same kind of symptoms and now she is in severe pain with her joints. I want to know if there is a disorder that matches any of my problems. I have a dry cough that has developed within the last 5 months. I hoping you can help me to know where to look for answers. View Answer |
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2009-04-02 |
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I have a daughter that was born with Cleft Lip & Palette. But within her first yr, she ended up being the hospital on a regular basis due to low immune system (& also sleep apnea). She was also delayed in reaching her milestones.
By 18mns of age, we had a chromosonal test done that came back that she had 47xxx. But we were also told that she has a connective tissue disorder - no name?
We saw a Geneticist 2 years ago & were told that she was born with several wammies & we were just going to have to deal with it.
Other issues that she has struggled with: Low muscle tone, Constipation (just tested for hirshsprungs disease - no results yet), her female parts were fused together through infancy & obgyn did x-ray & could not find 1 or both of her ovaries (can't remember), bruises easily, fatigue, flat feet, has balance issues. Has severe gag reflux & throws up frequently. She does not have cognetive issues. She also has acid reflux.
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2009-04-02 |
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My 6 yr old dtr has epicanthal folds and what I thought were short 4th toes.
In preschool she had developmental, social and behavioral issues. She was hyper and over-sensitive to clothing. The ped looked into something called sensory integration dysfunction. It was ruled out. Visual probs were ruled out aside from a mild rx.
She is now in kgarten. She has problems with linear thinking, problem solving and coping with new tasks. Her teachers are satisfied with progress, but they see deficits: spatial relationships, character recognition, etc. Having her eyes corrected did not help.
When I ran across Smith-Lemli-Opitz syndrome, I realized that it was possible her 4th toes were not short, but her 2nd/3rd were long. I also noted they are very slightly "y-ed".
I have read that very mild cases of this disorder exist. If she has it, is it progressive? Is treatment recommended? How is it diagnosed?
Any advice would be appreciated. If pictures help, let me know. Thank you. View Answer |
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2009-04-01 |
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In-utero son had short long bones. No disorder diagnosed yet, geneticist felt he was proportioned so wanted to "wait and see". Has aortic valve stenosis and extensive "stork bites" which are fading. He is behind on dev.milestones.13 months old now (not pulling up yet, just started army crawling).Started smelling acetone on breath.Elevated beta-amino isobutyric acid & histidine on urine test. Negative neogen screen test just done. Any insights?? Have a follow-up appointment with geneticist, but worried. View Answer |
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2009-03-24 |
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My son and his wife lost a baby boy with these symptoms: one ear, one eye lower on one side of face and cleft lip. They were told it was Turner Syndrome, but Turner's only effects females. What could it be? I appreciate your help. View Answer |
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2009-03-22 |
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i have my niece who is 2yrs old but up to know she needs support to sit,she never crawled, she can't speak.She is in kenya(africa).She has been to different treatments, physical theraphy but no change. what is her problem View Answer |
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2009-03-21 |
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My friend, a nurse, has a 24 mo old son who presented with the following symptoms; hypertelorism, dysphagia, projectile vomiting, failure to thrive, wheezing on expiration, and a supra tracheal hemangioma. Her ENT treated the hemangioma with laser surgery and the outcome was not positive. The child apparantly is now having more difficulty with projectile vomiting. Could this be a genetic syndrome like OpitzG/BBB? The child lives in the Birmingham, Al area. Can you offer any advice? Thank you for your time. View Answer |
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2009-03-19 |
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3 yr old F at age 18 months referred to a neurologist and genetics at 3 yr of age. Diagnosed with gross motor delay, ataxia, hypertonia, she currently has NO balance, Tremor (effects everything she does, fine motor skills w/ tremors all over body)?essential (?). Tonsillectomy and Adenoidectomy for obstructive sleep apnea which found tracheoitis. Strabismus surgery 2 yr 5 mo, and again at age 3 yr 4 mo. Normal workup: brain MRI w/contrast x2, thoracic and lumbar spine MRI w/contrast, LP, EEG, EMG, Hip xr, labs: lactate, pyruvate, amino acids, fatty acids, urine, Echocardiogram, Sleep study. Muscle biopsy showed mitochrondrial myopathy ?DNA lab work is normal-pending muscle tissue studies (Genetics not convinced of actual mitochondrial myopathy), Walks short distances w/ a walker has poor long distance stamina. Cognitively intact, sharp as a whip and very social. What are we missing? Additional Specialists? How can such an abnormal child have no diagnosis, why can?t they find anything? View Answer |
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2009-03-16 |
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My son was born full term and 8lbs at birth. He has a hypoplastic right thumb (type II) and has been classified as failure to thrive. He hasn't been sick other than a few colds, but luckily not even an ear infection. He is now 5 years 9 months old and weighs 34 pounds and stands 41 inches tall. Since starting school he has been classified as having ADHD. We just found out he has a duplicated ureter in his left kidney which isn't causing any problems. We have a daughter who is 8 years 9 months old that is healthy and consistently in the 50th percentile for height and weight. We don't have any family history of diseases and/or conditions. Chromosomally, our son is healthy, although the doctors want to do a chromosome breakage test. Is it possible to be born with a hypoplastic thumb and not have anything wrong genetically? View Answer |
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2009-03-12 |
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My daughter just turned two in january. She has been swelling from her waist down and both arms since last June. Noone in my family has ever experienced anything like this before. not even her little sister. we have been to doctors and specialists and they have all ran test after test and noone seems to be able to figure out what is causing this. She often has pain in her arms and legs. and when this pain occurs we have to give her a pain reliever. I am writing this to you to hapefully see if you have ever seen this before or if you know of what might be causing this. I would greatly appreciate any help or advice you may have. We are to the point that we dont know what else to do for her. Thanks so very much. View Answer |
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2009-03-11 |
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My son has been diagnosed with severe hypotonia (distal), dysgraphia, otherwise he is an exceptionally intelligent boy but having issues because of these things. My sister has a son also with severe hypotonia (truncal), dysgraphia and having issues in school too (he is also extremely bright)...both boys have incredible visual memory. Should we have genetic testing and if so how is it done? Our father died of sudden cardiac with pulmonary congestion so we aren't sure if that might have something to do with anything. View Answer |
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2009-03-06 |
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My niece has the following symptoms. She is 2 years old. She had a rash when she was born and a high white blood cell count so she was kept a couple of extra days in the hospital. She has had approximately 6 seizures since she was born. All with a temperature rising to about 101.5 when they happen. She has really strange toenails. They dip in the center and are kind of jagged. Her teeth are perfectly set apart with spaces in between all and they look kind of pointy at the tips. She has had thrush and cocksaccy (?). She has had about 4 mouth infections all thrush or candidiasis related. Sores in her mouth etc. That's about all I can think of right now. I'm concerned that she may have Autoimmune Polyglandular Syndrome (APS) Type 1. What are your thoughts? View Answer |
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2009-03-02 |
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My 7mo. old son has several (generally mild) abnormalities. He has CVI vs DVM (likely DVM); hypotonia; asymmetrical folds in ankles, thighs, groin, shoulders, wrists; high palate; shoulder dimples; fourth toes shorter than pinky toes; tongue-tie; pupils are slightly different in size (but adjust together); odd ridges on his gums (but teeth seem normal); and had whiteheads all over ? scalp, face, arms, legs, one nipple, genitals (most of these are gone now). None of these traits appear in our family history.
The only known genetic abnormality in our families is that my husband?s brother (and, we believe, his mother, grandmother, great-uncle) has Marfan, but my husband does not have it (he has seen a geneticist). Is there a possibility that my son?s abnormalities are caused by a genetic problem? Should we have him tested? View Answer |
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2009-02-22 |
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Both of my daughters have some kind of disease that prevents them from producing enough energy to thrive properly. They can not see or hear. They're nervous systems are deteriorating. They can not walk, talk, even hold their heads up. My oldest was 2 and died, she just stopped breathing. Doctors thought it was leigh's disease but that turned out not to be the case. Any ideas as to what it could be? View Answer |
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2009-02-15 |
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I have a 3 3/4 year old daughter with developmental delays. When I was pregnant with her she had a slight pericardial effusion and slowed growth at about 28-32 weeks gestation. Effusion was absent after birth and ecg shows normal heart rhythm. She is almosy 4 and her speech is hardly understandable (motor planning is poor) and she seems to skip milestones in her cognitive development (knows color, shapes, counts to 12, but has difficulty answering her name or age). We have been to a number of specialists looking for answers (neurologist, cardiologist,3 peds., metabolic geneticist). Physical features show a slight concave chest, underbite of jaw, speckles in the blue of her eye, she seems to "crack" in her joints occasionally. Gross motor skills are age appropriate, but fine motor skills are somewhat delayed. Mri, eeg, amino acids show no abnormalities. Any ideas where we should go with this? Thank You. View Answer |
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2009-02-07 |
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my son was born with an unknown syndrome he is 2yrs old! very lathargic at birth with cleft of soft palet, small cerebellumn, braud nose, low left ear, 11 sets of ribs, hands dont bend at knuckels, arms dont straighten at elbows, ASD+VSD, testicals presant not yet decended, 2nd and 3rd toes joined. he is still not walking but very close + does crawl,only says 3 words, understands perfectly when spoken to, rocks back and forward,has mild seizures, apnea attacs, sighns of scoliosis, grinds teeth,small head, extreamly strong, has trouble chewing and hates textures, irritable but very happy child! he has had 9 opps, 10 phnumonia's and stopped breathing 7 different occaisions, 5 seizures on 1 day,he's not epileptic,loves music and and weird sounds and packing things in and out,practicaly been on antibiotics since birth. what does he have? and is there a cure? any references? View Answer |
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2009-01-29 |
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Hi, my son has not been diagnosed with a genetic condition..but was wondering if I should get him evaluated. He is a 3yr old boy who has no mental or physical delays as of yet but many "issues". He was born with hypospadias, at his 2yr mark the doctor noted a heart murmur,he has never slept through the night(he could be up anywhere from 1-5 times crying), ever since he started solids he gets a red rash down the side of his face always the right side and from many foods never any respiratory issues.. it is not hives though and it is alway in the same pattern/place, he as a very strong gag reflex he has and thrown up from just the smell of things.when he was younger he would go through periods where he would throw up everynite for a week. He developed a lipoma on his forearm, he has flat feet and "knock knees", his face some times seems swollen or puffy... View Answer |
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2009-01-05 |
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My 4 month old son has had some issues arise since birth and I am wondering if any of his symptoms sound like a genetic disorder.
Please note that at birth they suspected he may have down syndrome, however they did chromosone testing and the results were negative.
These are the following symptoms;
hypothyroid -he saw an endocrinologist he is on medicine now because of elevation of levels
knee clicks-he saw an orthpedic surgeon this week..doctor suspects my son is missing ACL...he told me i should see a Geneticist.
lower lip-the right lower side does not move when he smiles or cries...its not really obvious unless you know about it
testicales- they have not dropped yet
finally his weight is low... 5th percentile
I APPRECIATE YOUR OPINION View Answer |
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2009-01-02 |
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I would like to know the possible syndromes that my daugher may possess.My daugher has these syntoms: widely spaced eyes, a broad nose and the tip of the nose is slightly clefted, down-set ears, the right side of the head is slightly indented, the ring finger of her right hand is polysyndactyly (the ring finger has two finger nails), the third toe of the right feet is lop-sided (not parellel with the other toes), and the fat/muscle line/mark is asymmetrical. She had conducted the ultrasound for her pelvic joints and the report is satisfactory and the physician said the joints are not dislocated. Please let me know what kind of testing I can do for my girl. I would like to provide you with some pictures of her if you would kindly give me your email address. Your help is very much appreciated. Thank you very much. View Answer |
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2008-12-23 |
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4 yr old girl. Hx of reflux. Texture issues. Sensitive gag and smell. Hx of ear infections, upper resp. infections since 2 wks old. Tubes places at 2 1/2 yrs. Hx of throat infections, kidney infections, & pneuomonia several times. Delays in speech, fine motor and gross motor skills. Speech is improved but she is still in OT and PT. Sensory issues. Sensitive to light and loud noises. Very social but can have anxiety about things like visiting the doctors office or doing something out of the normal routine. Tight heal cords and a concave arched feet. Feet also turn inward. Has a underdeveloped face with epicanthal folds and a large head. Abdomen distended a majority of the time, like she is retaining fluid. Chronic allergies. Wheezing on and off. Takes a month or more to get over colds. Scheduled to have an MRI Dec. Have seen a neurologist that just said to get an MRI. Has low tone & kind of floppy. Complains of being tired at times and wants to be carried View Answer |
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2008-12-04 |
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My son (age 2) has the following: IVF pregnancy, lost twin; high afp for Downs but no markers found on ultrasound except clenched fists; concealed penis, inguinal hernia, polydactyly (runs in husband's family...extra pinky finger coming out of the middle of the "real" pinky finger), epicanthal folds, frequent ear infections, bifid uvula, reflux when infant, global developmental delays - dx with autism; missing one tooth on maxilla; early tooth eruption; something about shape of chest?
Question: We have had several genetics tests done with no positive results. Should we continue sticking our child "searching" for something? What is the benefit? Should be be concerned about heart conditions? We see tons of doctors, and I am just exhausted and don't quite know whether to keep going in this direction. Thank you for reading! View Answer |
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2008-12-04 |
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I'm at "wits end" here. My daughter has multiple issues since birth..and now 13 years old. From developmental delays-now learning disabilities at this age. Congenital disorders, Kyphosis,respiratory infections,discolored pigmentation on her shoulder area(new), skin tags, hormone imbalance(one ovary removed). PCOS...now gone????Can't figure that one? One ovary gone but was told that wouldn't just "go away on the other one". Can you guide me as to who to see?? I'm thinking about the "whole picture" here. ENDO no good; please help! Thank you. View Answer |
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2008-11-30 |
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I just gave birth to my first child. She was born at 38 weeks by an emergency c-section. An ultrasound showed that she was not breathing or moving at the time. My fluid levels were low towards the end of the pregnancy. It dropped down to 5.6 at almost 37 weeks. At that time I was put on bed rest and my fluid levels went back up to about 7 for the rest of the pregnancy. The pathology report on my placenta said that there was a lack of oxygen in the placenta and it was starting to disintegrate(i think something like that). There was also some infection which could have caused it. My OB said there is nothing to worry about and just because it happened this time does not mean it will again. My daughter's neurologist thinks I should get tested to see if it was caused by a genetic disorder. He feels that if I have some disorder by finding out now I can prevent this with future pregnancies. What do you think I should do? View Answer |
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2008-11-19 |
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Young female child aged 3 years
- Failure to thrive, malabsorption
-Hepatosplenomtgally
-Neurologically free except for nystagmus
-Cardiac: closing VSD
-Hair loss
-Positive consanguinity
-2siblings died with similar picture:
1 girlt died at 3.5 years
1 boy at 5 months
Thank You View Answer |
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2008-11-15 |
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My daughter is now 6. Diagnosed with mild CP (right side hemiplegia) at 1; autism at 2; severe peanut allergy & other allergies & asmtha at 2; seizures start at 3 always in response to illness; regression in social funciton, health and general well-being age 3 onwards. Severe constapation always. Tests at age 6 show 14 IgE food alergies, Multiple IgG allergies; endoscopy shows inflamation throughout her duodenum. Has a twin, and 2 younger sisters who are neurotypical & without health issues. She has no speach, eye contact is either intense or poor;loves being with her family & physical contact ok, always hugging. Our family has no history of autism or neuro disorders. No history of autoimmune disorders, except my husband who had GBS as young adult. Specifically, I would like to know how I can determine if she has Rhetts Syndrome or autism. Does it matter? If you were to read this list of outward symptoms does she fall neatly into a know genetic abnormality? thanks View Answer |
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2008-11-13 |
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I've just come across this syndrome looking for answers for my daughter. Let me know if this sounds like a possibility for my daughter,or if there's something else I should be looking into
She is 12,she has myopia,had crossing,scoliosis,small for age,underweight, significant speech and body motor planning issues,hypermobile but not as much now ,her hands remain hypermobile,hip,hamstring pain,overbite,narrow grooved palate,social anxiety very,mild MR,tics and OCD,auditory processing disorder,stridor for 2 years.small face,triangle,smaller chin,broad forehead,but all has lessened with age,big eyes
hereditary'
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2008-11-10 |
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my son is 3 yrs old and has had problems sinse infancy. He was very lathargic and at 4mts still sleeping 23 out of24 hrs a day. It seemed he was having pettymal seizures and i knew something wasnt right. At 1 year the doctor said he was definately having devlopmental delay. He was in physical theropy for 10mts and now at 3 still in developmental and speech therapy and also special ed.It now seems he is regressing. On one of his mri reports it said this! symmetric abnormal signal within the pontine central tegmental tracts of indeterminate etiology or sinificance. Finding has been described in certain metobolic disorders.I am hanging on to my last string of hope. the propionic acidemia sounds like him. any ideas or sugg. on what i should do?? thanks View Answer |
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2008-11-08 |
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My son was born under stress oxygen deprived.He was hypersensativ . textures tempertures stimuly exc exc.and colicy.His head was always large.At 3 he had surgery for sever pectus excavatum.He continued to be a hyper sensativ child with some sever temper tantrum.Very brilliant.Signes of OCD from age 4.Now at age 21 he has found out that he has hypermobile joints through out.Kyphosoliosis sever pectus redusing his lung capasaty to 55%.He has very bad eye sight and had a sever underbite.The vertabreas in his neck are fuced and curved the wrong way.His brain MRI showes abnormaly large lateral ventricles.He suffers with psycriatric problems...ocd,depression, GAD, pottentialy BPD
His is long and leen with little fat .I am swedish. family history of Graves disease.His father is adopted possible of portogees desent.His sister was born breach and she suffers from migrains.I smoked during pregnancy. no consumption of alcohole or drugs. View Answer |
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2008-11-01 |
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I have a son that is 34 months old who is short stature (3-5%). Whose head is in the 75%. He was born with with very little foreskin and other penis abnormalities. He was born by c-section with vacuum assistance at full term. My triple screen came back positive but I chose not to have an amnio. He has ear pits and had reacquiring ear infections until a year ago. His speech and language are delayed. He has a sunken chest and an outy belly button. He seems to be sensitive to light and may have head aches. He was delayed in tear production, teething and walking. He has always had a very small appetite. He does not want to walk in the morning and holds his feet as if they are asleep or in pain. His feet turn in and seem to be getting worse. Is there a syndrome or condition that I can look into? Thank you. View Answer |
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2008-10-30 |
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Hi I have an 18 month old nephew with severe developmental delays. he does not sit, stand, crawl. he has a right side ptosis, bulgy eyes (downward slanted). his face is almost always expressionless. even when he cries its like his facial muscles do not move. he was born with a heart defect which was operated in the mean time. his toe nails are very fragile. he has bushy eyebrows and his testes have not descended and his tongue is "stuck". he is not bothered by pain and rocks his head back and forth. Is there any database I can research? Thanks for your help. View Answer |
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2008-10-19 |
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I recetly saw a student with a skin tag and no ,ear folds on left ear, he wore glasses and had slight nystagmus of his left eye. His left eye tended to wander during the exam of eye movements. His teacher said he was having some learning problems, especially reading. Several family members have significant vision problems. Should any further testing be done? View Answer |
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2008-10-17 |
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I was wondering if there was a syndrome that could connect several of these symptoms including congenital hypothyroidism ( born without a thyroid gland), brain cysts, developmental delays-possibly mental retardation and a heart murmur. View Answer |
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2008-10-13 |
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My daughter is 13 she was born with multiple birth defects as follows omphalacele, hydrocephlus, her brain is deformed around her venticals,a severe ASD (no septial wall), bi-lateral inguinal hernias, soft muccus cleft palette, Right diaphragm paralyzed. Know she has PJS. My belief is that since my wife was exposed to occupational chemical perchloroethelyne, methylenchloride, Xylene. This exposure was above normal exposure, my wife had cracked and bleeding hands (no protective equipment). This took place during the first tri-mester on the conception end of the tri-mester (greminal period) and my wife was around 90 lbs. My question is do know if chemicals can cause gene mutation? View Answer |
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2008-10-07 |
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My 17 yr old daughter has been ill for 4 yrs and has not been able to receive a diagnois (gastro, neuro, ANS, muscle, neuropathy,OH, vision problems). During my pregnancy my AFT came back as LOW. She does not have any symptoms of Down Syndrome. She does have spina bifida occulta, left vertebral artery not connecting to basilar artery, hyper flexibility, mild mitral valve, tricuspid valve, & pulmonic valve leaks. Family history of Sjogrens, fibromyagia, scleroderma, IBS, hemachromatosis, Thrombocytopenic Purpura, cancer. After numerous testing & specialist, still no diagnosis. Could this be something genetic as in chromosone abnormality (possibly connected to my LOW AFT while pregant)? Genetic testing has not been done. View Answer |
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2008-10-05 |
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My wife and I had our second daughter at 30 weeks. Born emergency c-sec because of a IUT that had clotted 20 min after the procedure. She has had a rough start and has been improving well. She has a g-tube (fed), her legs are a little bowed outward, she just had cleft pallet surgery and We have now been told she has an "Excessive" amount of fluid on the top of her brain. The Geneticist that originally saw her looked at her last MRI from about a month ago and they now say she has GA-I. We are going to see the local Geneticist on Thursday. She has already done testing for GA-II and Noonan's syndrome which she came back negative for on both. Just seems like a lot of guess work? Any input would be nice.... View Answer |
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2008-09-23 |
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my son was born with hypospadias,sacral dimple, vesicoureteral reflux - he later developed a seizure disorder and asthma, ADHD (hyperactivity), sensory intergration issues. He is extremely outgoing almost to a fault. He is in the 2nd grade, 7 years old. We also have a daughter with sensory intergration issues she has been diagnosed with PDD-NOS and severe learning disabilities - She is 11 years old and in the 6th grade-she reads/writes at about 2nd grade level. We want to know if there is a link and if this could be a genetic thing, should they be further evaluated. We just want to know if we need to be looking for any other "hidden" problems. Any information would be greatly appriciated. View Answer |
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2008-09-15 |
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My son is 27 months old and has the overall development of a 8 month old baby.
He has slightly folded ears, a smallish head, a squint, one ear drum is very small, hooded eyes. He weighs 11kgs, is 86 cm tall and head is 48cms in diameter.
He has a slight thinning of the corpus colustrum.But after seeing 2 geneticists, 2 pediatric neurologists 3 times, a child psychologist and the usual pediatricians no one can make a diagnosis.
He does not talk, he crawls and pulls himself up to stand but cannot stand on his own or walk. He is tactile defensive and some say he has autistic traces but cannot diagnose. I have been told about a blood test in Manchester that may be of assistance called the MPLA? test which test 32 000 strains? Can anyone make any suggestions? It is difficult to not have any answers but we do take him to physio therapy and occupational therapy regularly. I look forward to hearing some views. Kind regards View Answer |
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2008-09-11 |
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I am a speech language pathologist working with a 5 year old female who has no medical diagnosis as of yet but functions like a 3 year old, has significant immaturity and behavioral issues and characteristics similar maybe to Down's with the fingers and eyes. In addition each foot has the last 2 toes out of place and she gets UTI's or bladder infections upon occasion. She has made extremely slow progress with her communication only speaking in 2-3 word phrases with poor to fair intelligibility. Any thoughts on a possible diagnosis? She has had a developmental evaluation and results were that she only has a developmental delay. To everyone that meets her it is clearly much more. Thanks. View Answer |
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2008-09-09 |
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Hi,
My 2-year son has FTT (Failure to thrive) condition. He is perfectly normal reaching all his milestones, active, playful etc, just his weight..not gaining fast enough --he is 2 years and 21 pounds.
Today I mentioned to the doctor that sometimes when he comes inf rom outside play, he smells fishy and the doc said it could be a metabolic disorder sign and she wants to run some tests. I did read about this online and it seems ppl with this kind of disorder has smell all the time and it really does not affect themphysically other than the social/mental stuff.
My son does not smell all the time; only times i have noticed is when they come in from a sweaty ouutside play--not always; i have always thought that the smell is due to the bodycream and sweat mixing together.
Can you please tell me in your opinion if it is posisble for him to have this disorder?
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2008-07-30 |
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My 6 month old son was recently diagnosed with Tracheomalcia, Laryngomalcia, and GERD. He was also born with Hypospadias. Another thing is he is developmentally delayed. He does not roll over or do the mini-push up. Is there any Genetic Syndromes or Diseases I need to research that contain his defects? I have a feeling there is something more to my son's problems but his doctors are of no help. I am concerned there is a bigger picture not being looked at. It just seems he has a few to many congenital defects for them not to be connected. Thank you for any suggestions you may have. View Answer |
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2008-07-14 |
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Dear doctor,
My 2 months old baby girl was born with the following problems:
? Club foot
? Bilateral choanal atresia
? Cleft palate
? Improper anal position
in addition to difficulty in sucking and low weight gain.
I just want to understand her condition properly and to know her syndrome name so I will be prepared for other problems if there is any.
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2008-07-06 |
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dear dr. im amother of girl baby born with multible anomlities :
1- bilateral choanal atresia
2- un typical club foot
3-anterior position of anal in minor labia
4-cleft palate
and am feeding my baby by harbeman bottle because my baby is suffering during sucktion and coughing too much .... please dr. advice me what to do and i?dlike to know my baby syndrom if its belong to any syndrome and is ther is any chance to have another baby with same condition???? because am married to my causine,,,,and what is the reson for this chromosomal disorder????
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2008-07-06 |
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I have a 5 1/2 month old girl. She was IUGR , born at 36 weeks 2-lbs .9onz. on Jan 5th of this year. She presented issues. heart and lungs during the pregnancy and her Cardiologist just released her..now no issues.
She has gained weight but at a very slow rate. As of today?s date 8.8 lbs. 22inchs long. I have done some research and based on the characteristics she has presented. she presents the Russell Silver syndrome.
My concern is she does and what degree. the approach for treatment and how important it is to approach her at this young age. as not to lose to much ground that she may not be able to make up.
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2008-06-17 |
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I recently lost my son at birth, the autopsy determined that hypoplastic aortic and two vessel umbilical cord were identified, what does that mean and what does it mean for me should I be concerned with future pregnancies. View Answer |
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2008-06-10 |
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I am a teacher at a day care and we have a child who will be 2 years old in a month and he is unable to walk. He will not even try, as soon as you pick him up his entire body become limp and he falls straight to his knees. He can pull himself up, but only does when there is food involved. I have noticed that he has very small ears (especially for the size of his head). I was wondering if you knew anything about small ears leading to children not being able to walk. He does not talk, I have only heard him say a total of 2 words. (But since he is not in his home environment, I am not sure if he talks more there). Also, he refuses to drink out of a sippy cup, he still drinks out of the bottle. The mother had once said to me that she carried him around everwhere because he was too little to walk, and this was about 6 months ago. Is there a deformity, or is it just because he has been carried most of the time. We are trying to help the mother out with answers. View Answer |
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2008-06-07 |
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My 3 year old son's IGE is over 17,000. Doctors know nothing, and they do nothing. They tell me I have a well child with an abnormal blood test. Is there more that I can be doing other than treating the cellulites, and treating him with benadril and Tylenol when he breaks out. AT times he has sores all over his arms legs feet hands and head. They hurt him and he cries. I have been on a mission since he was 7 months old. It started out as eosinophilic pustular folliculitis of infancy, or maybe genoetti cross-t, or the most recent, papular uricaria. But no one is doing anything. I don?t know if he has had a STAT 3 test. Dr?s don?t seem to care. Help View Answer |
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2008-06-01 |
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My daughter was born with a mild heart murmur and a duplicated kidney system; she had 2 ureters on the right kidney, a uretecele and an extra non-functional portion on the right kidney as well. She required emergency surgery at 3 weeks and a partial nephrectomy at 8 months. Her doctor said that it could be part of a syndrom but never said what. Is it? Is it genetic? I was on a birth control pill which failed when I became pregnant and took tylenol pm for a few weeks every night before I knew I was pregnant. Also my son was recently diagnosed with type I Diabetes. What is the likelihood that my husband and I would have another child with problems? View Answer |
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2008-05-28 |
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My son is turning 4 9/14/08. No diagnosis; history: thickened nuchal fold @18wk US & shortened limbs, large head & belly. I was hospitalized for meningitis ~19weeks gestation. Enlarged ventricle @20 week US.Large head, short stature (under the 3rd%), normal birth size, jaundiced, hospital @5 mos~RSV. Seizures since 6mos attributed to breath holding,2 normal EEG's, crying spells & slept in a swing/boppy/car seat. Spit up/throwing up. Torticollis, severe developmental delay ~ smiled @ 5mos, sat @10mos, drank sippy cup @20 mos, never crawled (he scooted), walked @30mos. Attended PT 11mos-3yrs. Attends S/L class 4 dys/wk through special ed. Distended belly, acid reflux. Low muscle tone, overweight on BMI. He?s been tested through the metabolic and genetics clinic,brain ultrasound, EEG's, CT scan brain, GI biopsies (most recently). I need to be assured that something isn't being missed. No one looks @ the big picture and takes each test result independently. Any help appreciated, thanks. View Answer |
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2008-05-27 |
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I have a 7 yo daughter who is a frozen embryo baby. She was born with very low muscle tone, has webbed toes on both feet,has a high palet,a turned up nose,delayed developementally, and seems to have a learning problem, not comprehending or retaining, below average IQ score (81). I am just now starting gentic testing. I am wondering what I should target? Do a test that looks at more than one thing or should I know a specific direction before we start? Thank you for your time. View Answer |
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2008-05-20 |
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Adopted a child b.d. 9/0805. Mother is active, non drinker/smoker Labor was induced Normal del. 3 hrs post,had apnea episode.In NICU 2weeks released with heart monitor . Removed after 1 mnth.Was fussy, hard to comfort infant Dx GERD 4 mnths
MLStones on time or early.Dx asthma 8 months. Pulmicort 2x daily,& alburterol,neb. Zantac & zyrtec. Has rashes Bad sleep patterns. intolerant of changes,. No normal comforting worked.Has a noticable sacral dimple, it is shallow, high,hairless.Small feet blocked tear ducts slight epicanthal fold lazy eye frequently is cross eyed Above average language skills. Addicted to pacifier is not potty trained Stubborn short attention spa Tantrums, bites himself & others Chews objects Is afraid of anything new Walks on toes, flat feet. Has a half sibling with webbed toes GERD, asthma behavioral issues 7 yrs old vision problems.
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2008-05-19 |
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I am curious to find out what other conditions besides the extra fingers or toes are seen with the GLI3. My son has a submucous cleft pallet, born polydactal, , velopharyngeal insufficiency- very intellegent just has a hard time pronouncing.. cleft was not found until 4 years of age. facial structure and features normal. he does have horseshoe shaped kidneys. also questioned the genetic doctor regarding his chest appearance and it was considered within normal now I see in his report that my son is pectus excavatum?? researched internet and will be getting with the doctor... in the meantime I wanted to get information the abnormalities with the GLI3 that can also occur. View Answer |
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2008-05-05 |
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My niece, who is 29 months old, is not talking, other than perhaps 2-3 words, not babbling, not walking and has hardly any balance to stand up, even when you give her something to hold on to...she is very unsteady on her feet when even leaning on something. She is about to undergo genetic testing, by request of her parents, and we have all been doing research. Would it be possible for you to give me at least some possible disorders/diseases that may be causing this? She does make eye contact with us, will eat on her own, using a utensil, drinks on her own (sippy cup) and can sit up just fine on own. View Answer |
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2008-05-01 |
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My son has a cafe au lait spot, an ear pit, and a congential pink mole on his belly (which is being watched by a dermatologist). Since these are all fairly unusual and since he has all three, should I be concerned about any genetic disorders they are associated with? For example, since cafe au lait spots and ear pits are associated with Beckwith-Wiedemann Syndrome, and since ear pits are associated with other kidney disorders, should I get a kidney scan for him? He seems totally normal otherwise. View Answer |
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2008-04-05 |
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I work with infants ages 0 to 3 years. I have a child with a cleft palate, low-set ears, slanted eyes, beaky nose that constantly runs, and a hoarse voice. He slightly resembles the baby on "Family Guy." He initially had feeding problems, but eats well now. In fact, he wants to eat every 2 hours! Is there a genetic syndrome that fits this profile? View Answer |
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2008-04-03 |
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My daughter was born with severe congenital heart defects (primary TGA). However, she displays traits that cannot be explained by the heart defects. She has slow processing skills- MR level, despite normal IQ, hypotonia, microcephaly as an infant, unusual gait, growth retardation, slow social and emotional development, consitpation requiring hospitalization, mild scoliosis, small and very thin feet and hands and hyper mobile joints. She also acted strangely as a child about age 2- walking on toes, withdrawing, anti-social, screaming rages beyond tantrums. I began to fear she was autistic. Now at 16 she is very loving and affectionate. However it is obvious she is not like the other kids her age. She does not appear mentally retarded, just very young for age and socially ackward and a bit slow on the uptake. She is very unique.
She was tested negative for 22q deletion. I suspect mild Rett syndrome. Could this be a possible diagnosis? View Answer |
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2008-04-03 |
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Seeking exploratory leads for dx of a 25 month boy. Nonverbal, w/ minimal babbling. Hearing and mouth/palate OK. Some FASish features: strong epicanthic fold, very thin upper lip. Ears are very prominent with detached lobes. Eyes are widely spaced with an "Asian" appearance despite English heritage. Conceived IVF. Mother definitely did not drink or take medications during pregnancy and paid extra for a genetic screen prior to implantation. Mother has had autoimmune issues and was dx w/ atypical lupus, but not active for 10 years. First screening for Down Syndrome was atypical, but 2nd screen and amnio ruled it out. Child achieved motor milestones fine to now. Friendly and related: no PDD spectrum signs except no language and one incident of "hyperfocus." Very occasional idiopathic toe walking. Allergic to many foods, but not gluten. I strongly suspect a subtle syndrome but the main/obvious ones have been ruled out.
Thank you!
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2008-04-01 |
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I am amom of a15 mos. little girl. When she was born, I was told that she had mega cystern magna varrient that has resolved it's self @6mos., but she has had two genetics test and both have come back normal. Test done because she has "syndrome like" facial features, flat nose bridge, wide set eyes(like downs' kids), low set ears, large head and fore head. She also has cronic ear infections, chokes on fluids, and speach delay, asthma, allergies, and still is not walking. If you have any hints or tips please let me know. Ps she is a verry pretty child. View Answer |
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2008-03-25 |
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I care for an infant boy who is 8 months old and has significant eating difficulties, horrible sleep patterns, is small for age (15lbs 8oz), has nondescended testicles with a distended abdomen. He stares wide-eyed with tongue protruding most of the time. Has just started sitting up, interacting and starting to vocalize. No outward physical deformities. Could he possibly have SLOS? He has an 6 year old brother who has obvious cognitive and emotional issues. Also they lost a daughter at 14 months from complications due to malrotated intestines. They also have a 2 year girl who is right on track for her age. Could there be a genetic component for this family. I am most concerned about the infant boy. Everyone (teachers, MD's, etc) are very gentle with this family due to their devastating loss; however, I am with these children 5 days a week and have serious concerns. Am I being paranoid or should there be concern. View Answer |
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2008-03-13 |
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My daughter is 39 lbs and is 42" tall her birthdate is 12/14/01. She has a bifid uvula, high frequenct hearing loss, a flat nasal bridge and we are going to see an opthomologist this week. I had an anmniosantesis done when i was pregnant with her, it came out negative. What might i be looking for? is there anything i should look for at this point, what could it be?thank you, View Answer |
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2008-03-08 |
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9 yr old granddaughter. Been treated for autism since age 3. Is now in a 45 day assessment program at Glenwood in Birmingham, AL. They tell us that she is not autistic and we should be looking for a syndrome. Her arms are short, hands and feet small/ walks on her toes and can walk on her ankles/ does not speak/ has siezures/ has mild self abusive behavior (w/meds)/ has no social skills/ on about a 24 month old level/ has been tested for Angleman's, Prader Willi & FragileX. She is on Medicaid and needs to be seen by a geneticist. Are there any programs available to her? This doctor is not a geneticist and says he cannot tell my daughter what he thinks it is because of that, but stresses this needs looking into for the prognosis of her future. He stated "if her arms & legs aren't growing normally you have to wonder what else may not be growing". I have all the medical records if you need them. Thanks View Answer |
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2008-02-28 |
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Hello, d I have a daughter that was diagnosed with ADHD at the age of 3 years. I have been directed that she may have been missdiagnosed and may have williams Syndrome. She has alot of the common conditions but also does not have all of them. IE: She is great in math and science but way below in Reading and writing. She is overly social with others, makes friends easily but has a hard time keeping them. Perfers childern older and adults. Loves music, rights songs. Complains of cronic stomach pian aleast 2 times a month if not more. Cronic blatter infections. She has the puffy cheeks and small chin but she is 9 and 60-65 pounds (which is normal weight). I have addressed alot of my concerns with her doctor but she passes it off as lactose intolerance, ADHD symptoms, Behavioral problems. Insurance needs a referal to do the FISH test on her blood. Where do I go from here? View Answer |
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2008-02-25 |
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My daughter is 23 months of age and has many medical condtions going on the drs beleive there is some sort of syndrome that she has but are unsure of what
the things she has are
Chiari malformation type 1
hypermobile joints
clear skin on chest and abdoment
wide ataxic gait
ataxia
absent seixzures
gastroesophigeal reflux disease
paralisis of the stomach ( she is 100 percent Jejenostomy fed)
anal prolaps on many ocaions
laryngomalcia
short stature 74 cm at neally 2
FTT 7.4 kilos at neally two
extreamly long fingers
extended second toe
over folded helix
tongue tie and top lip to gums
prominent heal
and intoerance to all foods other then neocate
does this ring any bells to you i have thought maybe ethlos danlos syndrome whats your thoughts on it View Answer |
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2008-02-25 |
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Our daughter is 10 months old, some features were concerning her pediatrician. She has wide set buldging eyes, shallow eye sockets(MRI), broad toes/thumbs, and extra fluid in the front of her skull causing a buldging fontanel at times. We recently had the chromosome testing done and it showed 13 and 14 were joined. An array test was done and showed #4 was abnormal in size. She shows no sign of behavorial, physical, or mental impairment. She is advancing well and in some cases is slightly ahead in the learning process for her age. My wife and I are scheduling an appt to have the genetic testing done on us to help further discover what is causing the facial features. Blood work is normal, no thyroid issue.
Are there any syndromes linked to these chromosome abnormalities for 13/14 or 4 that would cause her facial features? Can anything be linked to the constant fevers she keeps having? What are the risks of having more children and are future children at high risk for birth defects? View Answer |
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2008-02-19 |
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Hello, I'm a mom of a 7Yr old boy with a group of medical issues wondering if it could be genetic?? He was diagnosed with epilepsy@3, Then we found a congenital malrotation of intestines, had surgery,Now we just found out he has Legg perhtes disease. I had a healthy daughter then a misscarrage and then him.Could this be one condition maybe with genetic factors??My children and husband all have red hair and freckles, blue eyes,my son is the 1 skin type.I want some answers to all his medical problems, He also has severe allergies, asthma. ???? Any correlation between all medical issues?? Thank you for any input.. View Answer |
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2008-02-13 |
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My 6 yo son has severe pectus escavatum, a hightened sense of smell, is very thin, and has large round adorable blue eyes. He is tall, but not extraordinarily so. His limbs, hands, and feet also seem to be of normal proportion to his body. He is a very picky eater and has a very sensitive gag reflex. He also has some mild acne and has recently developed a light, but thick line of hair on his back. On the more normal side, he is very bright having taught himself how to read prior to kindergarten. He functions fine in the class room and successfully plays organized soccer and wrestling with his peers. He has seen a pediatric cardiologist who found one chamber of his heart to be compressed by his concave bone structure, but that all of his connective tissues appeared normal and his heart beating without abnormality. Any thoughts on diagnosis????? Should I see a geneticist? Could the acne and hair be related to his pectus escavatum? Would you be concerned if he were your boy? View Answer |
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2008-02-12 |
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I have a 20 mo. old son w/mild generalized hypotonia. A little on the thin side. He has had an MRI, myopathy, chromosome analysis, prader willi/angleman FISH, CPK, heavy metals, urine organic acids, VLFAC, and a few other blood tests and all have been normal. We thought it could be a connective tissue disorder because we seemed to have symptoms in the family. Saw a geneticist and she pretty much ruled that out...and told us we would probably end up with a Benign Congenital Hypotonia case cause there were no other red flags. Since then we have found out that my husbands brother also has hypotonia and believe that my brother in law also had low tone as a child and has now compensated for his low tone and is a normal adult. Another cousin has a son who is 5 and W sits and toe walks as well. My son is doing well, progressing, and walking. I was just wandering if this sounds like it might be genetic in nature...should I return to the geneticist who saw us? View Answer |
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2008-02-11 |
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I am an SLP who is working with a 2.5 y/o boy. Presenting problems are small stature, extremely poor motor coordination, took first steps at 26 months, possibly apraxic, no speech except for open vowels, most recently diagnosed with myopia and wears glasses. Looks like he's always smiling, particularly when he is vocalizing, drools, has made progress but very slowly. Very blond, wide-set blue eyes, flat-bridged nose, wide-spaced teeth with no evidence of cleft palate, coarse-ish hair. DP recently suggested an underlying genetic problem. What could it be? View Answer |
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2008-01-19 |
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3 months ago I gave birth to a beautiful big boy of 4,1 kg but did not leave for long due to encephalocele, left eye was also absent , according to the Gynae it affected upper part of the body as the spine, kidneys etc were functional . This was diagnosed at 20 wks but I chose to take the chance and carry him full term. The reason for this is that prior to this i terminated at 16 wks due to the similar issue at this stage there was amniotic fluid. This was my third pregnancy, my firstborn is an 16yr old girl - I was very young when I was pregnant with her.
During this third pregancy an amnio test was done to detect whether this was genetic but according to the doctor the amnio results showed that there are no cromonosonal problems. What i would like to know is are there any genetic tests that we need to undergo or is the amnio sufficient to determine that the problem is not genetic.
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2008-01-17 |
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My 10 year old son has been diagnosed with many different things as a mother i would like to know if it could all be related to one genetic condition.He Has ADHD, sezuires, autism, dyslexia, developmentally delayed, sever constipation, growth hormone difficiancy, faliure to thrive,and Von Willabrauns disease.I know the Von Willabrauns is irrelavent because he definatly got that from my fathers side. We have family members with the same thing. But the constipation is so sever we had a malone stoma and a feeding tube place just so we can make sure he isnt getting backed up and we wouldnt have to be hospitalized for the ng again. If you have any suggestions I would be very greatfull for anything at this point the doctors are stumped.He carries CF but doesnt have it. Thank you View Answer |
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2008-01-16 |
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I have a set of 4 yr. old twins born with hypoplastic aortic arch and bicuspid aortic valve. I had a two vessel umbilical cord. The boys were born at 38 weeks and had heart repaired week they were born. One of my sons had failure to thrive-came home on feeding tube and threw up after each feeding. -feeding problems resolved now as they are almost five(dob 1/27/03). They are both very small in size ( one weighing 30lbs and other 32lbs they are very petite). The son with the initial feeding problem also had an undecended testicle. The both have speech problems andsee a speech therapist and have had tubes in ears. The same son with testicle/feeding problem also has one eyelid that droops. They are getting ready to start kindergarden in 8/08 and I am concerned about possible learning delay in the one that has had the most problems. I am very interested in genetic testing and live in the atlanta area. I have read about noonans syndrome and am curious if one or both of my boys have this. View Answer |
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2008-01-12 |
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I have a set of 4 yr. old twins born with hypoplastic aortic arch and bicuspid aortic valve. I had a two vessel umbilical cord. The boys were born at 38 weeks and had heart repaired week they were born. One of my sons had failure to thrive-came home on feeding tube and threw up after each feeding. -feeding problems resolved now as they are almost five(dob 1/27/03). They are both very small in size ( one weighing 30lbs and other 32lbs they are very petite). The son with the initial feeding problem also had an undecended testicle. The both have speech problems andsee a speech therapist and have had tubes in ears. The same son with testicle/feeding problem also has one eyelid that droops. They are getting ready to start kindergarden in 8/08 and I am concerned about possible learning delay in the one that has had the most problems. I am very interested in genetic testing and live in the atlanta area. What do you think? View Answer |
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2008-01-12 |
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Son born 3/10/00 by csec presented w/ saggital ridge & had surgery for at 9.5 wks. Visually nce outcome, but head size is still off charts. Large feet. Cranio "shelf" in the lamboidal region presented w/ surgically notable "wormian bone" formation. At 7+ yrs old, a panaramic mouth xray revealed congentially missing permanant teeth... 20,21, 28,29 on lower jaw and 5,4 and 13 on upper jaw (all pre molars/ bicuspids missing except for upper right which was just missing 1 bicuspid). SEVEN permanant teeth are missing . Genetically, parents and grandparents, there have NEVER been missing teeth presented.We are concerned about a 1st time genetic hiccup... reason for wanting testing is so we don't hear at 16 are heart issues we should have been monitoring from age 7.With the cranio a rare thing... now the missing teeth, and no "obvious" sydrome, we feel genetic testing is the responsible thing to do for him to ensure his future health. View Answer |
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2008-01-08 |
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My son was born with Situs Ambiguous ..We have had the genetic testing and his tenth chromosome is flipped and split in two places..but everything that was needed was there.I have been tested and found out it was not passed from me. It is something new. I was also told that it had nothing to do with his switched organs. He also has a candy cane arch, but heart is strong and has multiple to massive spleens. He has low RBC's and platlet count is always in the millions.He is 3 months old now and was told that they did not know what... if any could come of this..
Do you know of any possibilities or what it may cause or anyone that has had this same chromosome defect?
Thank You,, your answer is much appreciated
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2008-01-04 |
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My daughter was born with bilateral hip dysplasia. She was placed in a Pavlik harness for the first 6 months of her life. When she came out of the harness we noticed she was very floppy, therby being diagnosed with hypotonia. She also has hypermobility of all her joints. She has a bicuspid aortic valve, hypodontia, blue sclera, long palpebral fissures, and pronation of both feet. She was developmentally delayed with gross motor skills, fine motor skills and speech. She has completed all neurologic exams which came back normal. She has been seing a geneticist for almost 4 years with no answer. We have completed over 20 different genetic tests with all normal results. Where do we go from here? Our geneticist has no idea what is wrong with her. She is talking, walking and playing like a normal 4 year old just at a slower pace. Everyone keeps on telling us she has mild dysmorphic features and there is something wrong but no one is telling us what it is. View Answer |
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2007-12-29 |
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Hi my son is 5 and has a lot of health problems and I would like to know if he might have a genetic disorder? He has been diganosed with ASD and VSD and both closed by the age of 3. He still has a heart murmur. He also has severe Acid Reflux and Gasteritis which he has been on medication since 1yrs old. He also has severe evorimental allergies as well as food allergies and is on medication for that too. He as recently been diagnosed with ADHD and the worst has been that he has had to under go surgery for a tumur found growing into his right femur above the growth plate. He was born premature at 35 weeks due to myself having Preclampysia and being diabetic all through my prenancy. Could it if have been me that caused all of this or could he have a genetic disorder that the doctors simply are OVERLOOKING? View Answer |
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2007-12-21 |
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19 month female with diagnosis of FTT and mild hypotonia. Hx of ng tube feeding, severe reflux, questionable laryngomalacia, mild dysmorphic facial features (i.e.telecanthus), high palatal arch, excessive social and verbal skills, saccral dimple with hairy tuft, mild agenisis on MRI of brain and spine. mri and genetic testing reveal negative findings for spina bifida, turner, prader-willi, aicardi, de george syndromes. extensive metabolic workup at mayo clinic rochester. all findings WNL. child is p.o. feeding and following normal growth curve. developmental milestones met within normal time frame. is williams syndome a potential diagnosis? what other syndromes are suspect? where do we go from here? PLEASE help. View Answer |
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2007-12-19 |
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I am a Speech Lang Pathologist.Is there a genetic syndrome/disorder related to the following characteristics? This child does not have any other related syndrome/diagnosis. I have consulted a doctor for single symptoms, but never thought to ask if this collection of symptoms is related somehow.-strawberry hemangioma of the face-velopharyngeal insufficiency-speech delay-normal language, cognition-hitchiker's thumb-sandal gap deformity on feet View Answer |
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2007-12-17 |
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My 23 month old daughter, born premature at 30 wks & weighed 2 lbs 15 oz, was diagnosed w/deplegic infantile cerebral palsy. She walks on the tip of her toes & has had tight heel cords since birth. An MRI was done at 18 months & we were told there were some abnormal radiology findings. Since then she has had the following lab work done: long chain fatty acids, plasma amino acids, acylcarnitine profile & arylsulfatase. Is this just being done to "rule out" specific disorders or is he headed somewhere with this? Her neurologist is not very informative at all but we have been told he is one of the best. We didn't even know she was being tested for these things until he sent us to the lab with the lab order sheet & they sent it home with me because they weren't able to perform one of the tests that day. Is there a reason to be concerned or do you feel this is just the procedure to rule things out? View Answer |
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2007-12-16 |
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Hi I have a daughter.At present she does not have an underlying diagnosis,i am trying every day to find a diagnosis.help me in getting a diagnosis. My childs symptons are as follows: NG feed, Microcephaly, Infantile spasms, development delay, poor vision, poor hearing. I am asking for your help in any way in finding a reason for why my daughter is the way she is. She was born full term,normal delivery,eveything was fine up until she was 12 weeks old when the health visitor noticed her head was not growing. She has had loads of tests done in the last 2 years,eg MRI EEG,loads of bloods.As of yet nobody knows wat is wrong.She is 26 months old,her development has gone down hill since her fits started in march,she has only been NG feed since april this year.I dunno what else i can tell you,i think iv covered everything.Please can you help me.
i would be greatfull in any way possible.thank you,i will look forward to hearing from you.
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2007-12-14 |
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my brother is 42 years old with multiple sclerosis, his wife is healthy. They recently lost a male newborn who was born with pulmonary atresia-membranous type. they are trying to concieve again. Is there a genetic basis for this condition and any screening that they need to have done? thank you View Answer |
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2007-12-02 |
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I have a 17 month old daughter that has a bicuspid aortic valve, open anterior fontanel, semian crease, webbed 2nd and 3rd toes, failure to thrive, short stature, low birth weight, discoloring teeth,sweet smelling breath, and slight developmental delay. As her mother I know something is going on here and all tests are coming back within normal limits. She won't take many fluids and has been placed on cyproheptadine for appetite increase. PLEASE HELP me figure this out! Thank you! View Answer |
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2007-11-09 |
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My child has yet to be diagnosed. He has history of seizures (from 5-8 months of age), global delay, hypotonia, undescended left testicle, middle finger joint contracture on left hand, delayed viosn and low myelination on MRI done at 3 1/2 months of age. He is due for a MRI at 2 years of age (01/08). He had general genetic and metabolic testing done last Novemeber and all came out normal. He sees a geneticist at Children's Hospital in Detroit. He's considering C- syndrome, but my son does not present with typical features. He also is interested in seeing the second MRI for possible cortical migration or Lelizaeus-Merzbacher or ALexander. What do you think? His eyes are slightly wide set, and he is on the 4-5% growth curves for head and weight. He is on 10% for height. Does anything come to mind besides what my geneticist is thinking? Please let me know what you think.
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2007-11-07 |
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My sister has three children and each have some birth defect that are very different. The oldest was born with out a left hand. We know that it wasnt an amniotic band because she had some wrist bones and you can see five spots where her fingers would have grown. the middle child has a constricted pallet, a cross bit, and missing 6 year molars..they just never developed. the youngest has Duanes Syndrome. He is missing his caranial nerve to his eye which controls motility,also myself, my sister and all our kids and mother have a deformity called clinodactyly. My question is can they be interrelated? And could this be related to Halt-oram Syndrome? My sister has took the kids to there seperate specialist(dentist, eye, and prostectic) and she has told them her concerns but none seem to take her seriously. We just want to know if we are being far fetched about this or if it is a possiblity. View Answer |
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2007-11-05 |
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My 10 mth old son has been diagnosed with several conditions. He has severe bronchomalacia of the left main stem bronchus (using C-PAP overnight). He has a moderate ASD with large pulmonary arteries. The ASD is being closed in the next few wks. He also has hypospadius. He was born 9 days late, but most docs who have looked at him assume he was born prematurely. My birth dates were definitely correct. He was born in a birthing pool. Is there a genetic reason which would cause him to have these problems? Are these problems linked? He has a 26-month old brother who is prefectly healthy.
He recently contracted Adenovirus and Moraxella and his left lung collapsed. He was ventilated for 2 weeks. Since then he will not eat orally. He is currently being fed via NG tube. It was thought it would be short term but he still refuses to eat 3 months on. Is there any reason why he will not eat orally? He can suck a dummy, so he has not lost the ability to suck.
Many thanks for your time. View Answer |
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2007-11-03 |
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We had a baby boy two weeks ago who is still in the NICU with feeding issues. He was born at 37 weeks after a difficult pregnancy and c-section. He has had trouble with sucking and taking a bottle without tiring out, so they're testing him for syndromes or genetic issues. I had a clean amnio and they're re-testing his chromosomes. Here are observations that the doctor's made...can you give some thoughts if you think he has "something". The doc said he has "dysmorphic features"...his head is large for his body size, the top of his face is larger than the bottom, his mouth is small, palate is high, upper lip is smooth and thin, ears are not as "intricate", his ring finger and middle finger are the same size and his thumb is lower than usual on his hand. I had numerous ultrasounds and was always told that my son was in the lower percentiles for size. His tone is great except for his head/neck which are a bit weak. Any thoughts??? View Answer |
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2007-10-17 |
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My younger sister was born with agenesis of the corpus callosum and cerebral palsy. I always thought that this was due simply to the fact that my mom was older when she had my sister (she was 43) and that things like this are more likely to occur with age. Now that my husband and I are starting to think about starting a family I'm wondering if these things could be hereditary. If so, could I be a carrier? Could I be tested to find out? Would I have to ask to be tested for something specific or is genetic testing a broad range test searching for many possible things? View Answer |
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2007-10-16 |
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My son was born at a normal birthweight and the birth was normal. At five months we began to suspect something was wrong b/c he had not reached any milestones and had gained only 8oz. he has been diagnosed with failure to thrive, severe GERD, craniofacial abnormalities (low set ears, small lower jaw, wide set eyes, eversion of the lower lid, small forehead, broad flat nose) hyperextensible joints, pulmonary ductis arteriosis global developmental delays His MRI showed softening of the white matter and Chiari I malfomation. He has hearing loss as well as sensory problems. Even on a high calorie diet he has only been able to gain 8lbs since birth and is -3 on the growth chart. We are in the care of a geneticist (he has had a wide array genetic mapping however everything came back normal including metabolic blood tests)at our local childrens hospital but have not recieved any information on possible disorders.Would like to know if there are any disorders with these symptoms View Answer |
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2007-10-11 |
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10 yr. old son born with microcephaly and a bifid left thumb. Now is autistic, non-verbal, can walk and understands commands, not always in control of emotions. Have had genetic testing, but couldn't find the syndrome. View Answer |
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2007-09-24 |
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I am a SLP and recently evaluated a 1st grader in my school district with several anomolies: decreased growth rate, smaller upper mandible than lower, mild bilateral hearing loss and no/low enamel on her teeth. She has been diagnosed with allergies to wheat, dairy and eggs and presents with normal receptive language and language contents skills, but very low 1%ile and .5%ile in expressive language and language structure skills. Her articulation has patterns of stridency deletion, and cluster reduction. I am wondering if her anomolies match any genetic syndromes. View Answer |
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2007-09-21 |
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I have a 4yr old son with an undiagnosed genetic condition. He has macrocephaly, cafe au lait spots, developmental delay, seizures, hypotonia, and clinodactyl to name a few. My question is are there any know hospitals in the United States that are well known for having an exceptional genetics department? My son has been tested for everything from Fragile X to Bannyan Riley Syndrome. I am considering going out of state to Alabama possibly on a quest for a diagnosis. Thanks in advance. View Answer |
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2007-09-17 |
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My daughter is 5 yrs. She was born at 38 weeks.Always had constipation,did not tolerate milk well.When she was two she packed on 35lbs in three months and has not stopped.she is now 93lbs.She has asthma,glaucoma,OCD, ADD,anxiety,aggressive,has developmental delays,Has occupational and physical therapy.She has NASH, insulin resistant,has had prader willi and several other tests which were normal.She is awaiting the results of mitochondrial now.She is week and tires easy.Do you have any suggestions or possibles diseases?? View Answer |
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2007-09-16 |
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My niece just turned one. She was suspected of having c.p. when her muscles were abnormally stiff at 4 months of age and she was not developing properly. She went through much therapy and has progressed well - in fact she is now crawling (slowly) and sitting up on her own. Could she actually have congenital hypothyroidism? The occupational and physical therapists say they have never seen a case of c.p. like this one. She has a big head, sleeps a lot, cries little, had high tone muscles, a thick tongue and stocky weight.Any advice you could give would be great. View Answer |
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2007-09-10 |
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My water broke at 32 wks, and my son was delivered at 34wks , with good weight breathing etc. He stayed in NICU 17 days for poor suck. His developement seemed great over nxt cpl weeks although he slept alot and eating was still a challenge. He made good eye contact, focused with acceptable hand-eye coordination. Rolled over at 6weeks and reach for things. After his 2 month shots he seemed to be having mild absence like seizures and put on 32mg daily phenobarb. After 2 wks he developed Nystagmus in both eyes, was unable to focus, make eye contact, gait disturbances, and trbl with balance. Has diffuculty dealing with changes, such as someone in the room standing up to walk through the room. He never had another seizure. MRI showed mild Hypoplasia & more space in ventricles and in frontal lobe region than expected, EEG Normal. Weaned phenobarb. when 6 months. We have found balanced transloc. of 3 - 18. My baby is now 16 months old, and motor skills of 6 months and cognitive of 9 months although he is quite big for his age.. Speech delay as well.. If what's wrong is the translocation, how could he be mostly fine and able to do things and then one day just stop? He also was tested for Mito. which was neg. but there were two elevated ammonia test results as well as high B12, apprx 1700 was the amount. Please tell me anything you can. I was tested and do not have trait, his father has not been tested. Thanks so much! View Answer |
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2007-08-13 |
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I am a parent of a child who has multiple conditions and I am curious as to a second opinion as to whether there is a genetic congential reason for the multiple diagnosis'. She has autistic spectrum disorder, moderate intellectual impairment, epilepsy, failure to thrive, sinus tachycardia, and recurring severe respiratory viruses and respiratory distress. Her respiratory symptoms mimic cystic fibrosis but she is sweat test negative. She has salt cravings and is still failing to put on weight despite being on a high calorie, high protein diet. Her thyroid and adrenal function have been tested and have both come back as normal. I find it odd that a 5 year old girl could have so many heraditory conditions and it not be a genetic condition. Any help apreciated. View Answer |
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2007-08-09 |
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I am 31yo and I had a miscarriage at 20wks of pregnancy. At 19 wks we receive the amnio resuts 46xx but the afp still elevated in amniotic fluid. An ob-gyn perinatologist perform a 2D and 3D USound and gave us the devastating dx of dandy walker (cerebellar hypoplasia w/ vermis absence,posterior fossa cyst and 4th ventricle dilation) also the baby had cleft lip/pallate, mild grade of VSD, a single umbilical artery and 3wks of growth delay. They recom. termination of pregnancy due to the multiple malformations and a dismal prognosis). We saw two perinatologists, one said the findings are stongly suggestive of a genectic syndrome and the other said that it is not a genetic problem, that it is a congenital malformation and it should not be a problem for a future pregnancy. I'm a veterinarian and i know the difference between a genetic and a congenital problem and how it could be mixed but I don't know anything about this syndrome. We don't have familial hx of any genetic problem ( at my knowledge). Should we have to visit a genetisist?, there's a predisposition on a future pregnancy?, Could I prevent this type of problems in a future pregnacy?,As a Vet there was an exposure/predisposition factor to that problem? View Answer |
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2007-08-01 |
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I work at a health department as the genetics coordinator. I have a client who is pregnant and states that the father of the baby and his nephew were both born with intestinal malrotation. I was wondering if this was a genetic anomalie or coincidence. From the research I have conducted, intestinal malrotation is not genetic or hereditary. Can you confirm this? Thank you. View Answer |
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2007-06-27 |
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My son has actually been treated by the Atlanta Craniofacial Team. Doctors have commented on markers such as, his unusually wide midline cleft, hypertelorism, delayed visual development (thought to be severely visually impaired until he was 4 1/2 months old), nystagmus, misshapen skull, difference in his ear size, and long skinny fingers. He has also been found to have a benign heart murmur.After being diagnosed with Obstructive sleep apnea at 7 months old he had a MRI, which showed a Basal Encephalocele, Ranthke's cleft cyst, basiliar invagination, and cerebellar tonsil displacement. http://www.wesweb.blogspot.com/ has pictures of Wes from birth until now. His local pediatrician ordered genetic blood work, which included subtelomere scn, chromosome analysis, and FISH analysis. All were normal. He has never been diagnosed with any specific syndrome, but I feel that these issues must be more than some random coincidence. Is there more specific testing that may provide answers? Is there a specific syndrome that these diagnosis and markers identify? View Answer |
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2007-06-25 |
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My daughter (age 9 on July 1) was diagnosed with benign hypotonia caused by a mild chromosomal abnormality at age 11 months. MRI showed her myelin sheath at the stage of a 4-month old, she grew at the 75th percentile for 6 months, had no growth between 6 and 9 months and has grown in the 3rd percentile ever since. She's been diagnosed with ADHD Inattentive Type, dyslexia and learning disabilities in reading, writing, spelling and math. She has headaches almost daily and was just diagnosed with vesicoureteral reflux. She is weak and gets sick easily. What could her abnormality be? What is the syndrome that she has? View Answer |
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2007-06-17 |
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My son was born 16 years ago. The pregnancy was difficult; I had polyhydramnios (measuring 53 @ 26 weeks). He was born at 37 weeks, weighing 8 lbs 14 oz. He was very floppy, had club feet and required ventilation. He also was diagnosed with a neuroblastoma. Many tests were performed and no concrete diagnosis could be determinied. I was researching the internet and saw that polyhdramnios could be related to mytonic dystrophy--and he certainly had many of the charesterics. He was ventilator dependent until he died at 16 months. Should I have genetic counseling. View Answer |
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2007-05-11 |
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My daughter was born with a large congenital diaphragmatic hernia, a patent foramen ovale, laryngomalacia, tracheomalacia, bronchomalacia, possible gastroparesis, and was tongue tied. Her pediatric enterologist told me that he had never seen a child with her host of symptoms who didn't have Down Syndrome (she doesn't). When she was being treated for a life-threatening respiratory infection the pediatrician asked if she had been diagnosed with a syndrome. Because my daughter was cared for by so many specialists no one ever took the lead to correlate what they were all working independently to fix. Could this be a syndrome, and if so can you give me any idea of what? View Answer |
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2007-05-09 |
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Hi there,My son was born with a coarctation of the aorta, VSD, ASD, hypospadias and syndactyly of toes 2 -3 of the left foot. He does not have any obvious facial abnormalities, and looks 'normal'. We have had numerous genetic tests done including FISH test for deletions and VCFS, cholesterol test for SLOS, subtelometric FISH test to look at the tips of the chromosomes and are now getting an array? chromosome test done. All have come back normal so far, but am constantly worried about what the results will find. Just wondering, is it possible that my son does not have any syndrome, and that the abnormalities he has do not have a genetic link? Also, if he does have a 'syndrome' is it possible that it may not result in an intellectual impairment? ie. are there any syndromes that do not have intellectual problems and the child can grow up and be totally 'normal' in terms of mental capacity? View Answer |
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2007-05-06 |
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My son was 40cm at birth and weighed 1840g. He was IUGR and therefore delivered by c-section. He has severe hypospadias, a heart murmur, acid reflux and is not meeting milestones even considering corrected age. He also had surgery for left and right incarcerated inguinal hernias. He had jaundice at birth and was on a feeding tube for 4 days. My prenatal blood work was also abnormal. HCG was 5x the norm and Pappa-A was very low. I had a normal amnio but the femur length was 3-4 weeks behind during pregnancy. There was also a true knot in the umbilical cord and the placenta was a grade III at 30 weeks gestation. I did not consume any alcohol and I do not smoke and have no known diseases. I am 5'3" and my husband is 6'1". My son is now 6 months old and weighs 14lbs and is 60cm. Does my son have short stature or some other syndrome? View Answer |
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2007-03-30 |
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I was wondering if you can help us with this puzzling question! ? Our son who is 8 , was diganosed with what they thought to be bacterial mengitis (jan 2001) and the tender age of 2 1/2 , then 2 months( april 2001) after recovery he was flown back to sydney childrens hospital with ADEM....they told us that it shouldn't re-occur, but again within a month of being out of hospital, similar symptoms all over again.(June 2001) they kept him on steriod treatment, predi-sone for a lengthy period of time, and he has never really been off this treatment since then. (nearly 6 years )...now we are still battling these symptoms of severe headaches, redness to the eyes, swelling of joints, rashes that are like urtical, high temps ( 39C - 41C ) tenders to the joints and lack of movment during these attacks. They tested him for numerous conditions, and we are even seeing a rhuemtologist and neurologist and a metabolic team, and it seems everyone else. They have now sent his bloods and dna off the America some where, Nevada, i think, to be tested as there is nothing that can be done here in Australia. Do you think you know what it could be??? they do say that they know it is genetic! View Answer |
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2007-03-25 |
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Hello i am just wondering if you could answer the following question please - is my baby's fetal abnormality genetic? My baby was born stillborn at the end of 2006. He had something called holoprosencephaly with a cleft lip and palate, small lungs, un normal ribs, hydracephalus, left hand was curled a little, eyes were small, and a back problem. After visiting a specialist for post mortam results we didnt get much information. They say it could be genetic but they are not sure. We now have to wait weeks to find out more info. Could you tell me a little about the word "genetic" and if you think my baby's problem may be. View Answer |
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2007-03-06 |
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I work in a school setting w/a 4 year old child who has severely wrinkled fingers, speech development delay, poor muscle coordination, is extremely active, and has poor social interaction, aggression and is immature for a child of age 4. His facial features (head shape) are a bit different with the forehead very rounded.The wrinkled fingers are the very noticeable aspect. He also has sensory issues--can't handle noise, external stimuli easily. His birth weight was 5 lbs 5 oz as a full term child. His aprents have consented to having him evaluated by a psychologist. The rest of his skin: facial, arms, etc, is fine. His parents are becoming aware that he needs evaluation by experts and I am trying to help them w/ that process. I am wondering if wrinkled fingers is a characteristic of any syndrome. Thank you very much for any direction you can provide. View Answer |
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2007-03-02 |
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My husband has beta thalessimia.We have three children and our first born was sickly.He had stomach reflux, anemia, poor eating habits, poor growth,reflux in the kidneys stage 3. He's now ten and i've been worried his genital growth is very poor. Hew's shorter than his classmates too. I will love to have him and his brothers tested and find out how this is affecting them. I don't know where to start. Please help. View Answer |
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2007-03-01 |
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Hello: I am unsure if my child has a genetic condition or not, but I have been faced with an uphill battle since his birth 11 Nov 05 and getting answers, etc from our "so-called Drs / practitioners, and I have so many questions. I am a military memebr, and a veterinary technician for many years, and can be anal about details, perhaps to a fault. He was diagnosed Failure to Thrive at about 8 mos of age, then Acid Reflux at 10 mos. He maintains the same weight for about 3- 4mos, then gains 1/4-1/2 lb, and goes through the same cycle. We let him eat whenever he wants, healthy stuff, fruits, veggies, meats, etc. He gets whole milk with Carnation Instant Breakfast 3-4 times daily (7oz average each time). Endoscopy w/Biopsies normal, Hemoglobin low, other values? Immunoglobulin? Noone has informed me; I cannot convince anyone to do t or B cell counts, or genetic testing. He certainly does not appear "dwarfed" although he is small; my husband and I are both short stature. It is his rate of growth and other inconsistencies that raise red flags. He is my #2 son, my oldest being 4 years and just fine. Help? View Answer |
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2007-02-27 |
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My mother had a brother born sometime in the 60's that had serious abnormalities ie: he was male and female, webbed feet and hands, no bridge on his nose, his chest was sunk in. He died at only six months old. My daughter now has some signs of turner syndrom, she is in the 5th persentile in her height, she has had constant ear infections to the point of her ENT giving up. He threw his hands up and told me to have a doctor find out what is wrong her before he would do her 5th set of ear tubes. She had since seen a new ENT who thinks she has Reflux, she was tested for reflux when she was about 10 months old and the gastro doctor said if she had it at all it was very mild and nothing to be concerned about. She has been tested for allergies, Cystic Fibrosis, Immune System problems, vitamin deficiancies, she saw her pediatrician 27 times from October 03 to may of 04 and each time was givin another antibiotic for an ear infection! Eventually as I am sure you would know they had to give her Rocefin injections because the oral stuff wouldn't work any more. Her skin feels different than my skin or my sons skin, it is kind of tight and always very dry and scaley, she has had surgery for Strabismus just about a year ago and when she talks to you still she seems to look around you, she never looks me in the eyes. She also had jerking spells that her first pediatrician dismissed as her nervous system developing, I changed pediatricians and had her seen by a neurologist. They did an EEG on her and it came out that one side of her brain was bigger than the other. Two months later they did a three day EEG and it came out normal, she had the spells for two more months and then they stopped. She is really smart, potty trained by the age of 18 months, she knows her colors, ABC's, and she loves to sing songs. I had two healthy pregnancies, and gave birth to both of my children at 36 weeks. They both had a little Jaundice, but my daughter only had use of one side of her face and she was very floppy at birth, do you think my daughter could have Turners Syndrome? Could it be hereditary, my eyes cross when I am sleepy and I have had kidney problems, my mother had heart surgery when she was four and again at 9, my middle sister is about 4'9" tall and one of her daughters is 5 and is only about 36 inches tall? I may be over reacting but is it possible? should I get her checked? View Answer |
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2007-02-26 |
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My girlfriend is in the process of adopting from an Asian country and just received the match picture on Saturday. The pictures show a 17 or so month old girl leaning against a tree and another sitting on a toy car. In both pictures, she is holding her hands with a seemingly large space between her pointer and middle fingers. In addition, her forehead seems to be very tall and wide, and her eyes further apart than what I would think is normal. For purposes of clarification, she looks like she has a "Frankenstein" shaped head and the space between her eyes looks wide and "doughy" (if that makes any sense). Is there a syndrome that would have pyhsical markers of space between the pointer and middle fingers and a large forehead with extra space between the eyes? She is seemingly on target developmentally for a child who has been in an orphanage every day since she was born. She is 19 months old now and can hold herself up, but not walk. Any feedback would be appreciated! View Answer |
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2007-02-05 |
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My child has alot of different sx. and I wonder if its all related or not. We have a genetic consult the end of Feb. but would love some info beforehand.... She was 37.5 w gest, 8/9 apgar, 6-11bw normal newborn. The newborn screens were wnl at 3d. She was breastfed exclusively for 18mt with foods added at 6mth. She's now 22mths,great eater, drinks lots of water,UTD on immunizations. But....has fallen on growth chart for her weight, despite great appetite. She has had BOM so much she has had ear tubes twice in 1 yr. Also bronchiolitis, uri's, rsv once, strep twice, viral infects.we did not treat with abx and had infl. A this past Christmas even though had the flu vaccine 2 years in a row. They took out adenoids in Sept. which helped none, obviously. The ENT did allergy panel IgE-neg and immunoglob. panel- neg except IgA just under the low normal range. PCP did urine and blood for amino and organic acids--all neg--except urine reducing sub was positive. Now, during all this, since her 2 mth check, I have noticed a faint musty, kind of dirty sweaty sort of smell. By the time she was eating foods, it would be really strong depending on what she ate...kind of fish like. off and on. When she weaned, it became very pronounced....thought it was from being sick all this time, mucous in nose, germs in throat, etc. Its alot worse with fever and illness, but there most all the time. I researched and found Trimethylaminuria disorder. I stopped protein and milk products along with beans and her body odor is much better. her urine still is strong but smells like a tuna fish if she eats even one chicken nugget or 4 oz of milk. Hopefully genetics will answer this but is all of these sx related to something else? is this all mixed into one equation? any suggestions will help greatly. thanks for your time and knowledge..... View Answer |
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2007-01-30 |
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A friend's son (10.5 yrs old) has numerous issues. A number of years ago, a physician at The Children's Hospital of PA mentioned a birth defect concerning Chromosome 22, which he said the child might have, however, other physicians at CHOPS dismissed the idea. I've only know the child personally for the last 2 years, and many of his disabilities were very apparent to me almost immediately. I believe that the physician at CHOPS may have been correct. For one child to have so many problems, that it must be a part of a bigger picture. He's in a Special Education class. His IQ is on the low end of average for his age. His current math skills are between 3rd and 4th grade level, his reading is between 2nd and 3rd grade level. His maturity level (especially in social situations) is on par with a 6 or 7 year old. Many times, he has difficulties separating reality from fantasy (his stuffed animals have feelings, Thomas the Tank Engine is real, etc.) He is very impulsive (was diagnosed with ADHD when he turned 10 years old), defiant and purposefully annoying (was diagnosed with Oppositional Defiance Disorder). He becomes very infatuated with things for weeks or months at a time, then changes his focus to another object. He complains constantly, sometimes repeatedly for a great length of time. When he becomes angry, it's explosive. Some other things are: Bi-lateral conductive hearing loss (approx. 45% loss), Large, bulbous nose, Low-set ears, Vision problems, Dark circles under his eyes, Small, recessed chin, Discolored tooth enamel, Flat feet, and Scoliosis. The roof of his mouth also appears to be very concave. He's very fair skinned and his veins are easily visible. I believe that he was born with an undescended testicle that required surgery to correct. Now, my question is, does it appear that he's a candidate for further screening? Any insight or advice you may have would be tremendously appreciated. View Answer |
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2007-01-25 |
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Hi. I have a question about a 4 month old. She was born with a dysmorphic left ear ( it looks like it has an extra piece of cartiledge) but passed her newborn hearing screen. Her thumb on her left hand does not seem to extend as readily as the one on the right, although it does extend and she is using her left hand to grasp toys/objects as well as the right. She has a small pinkish flat birthmark on her left wrist. She is developing beautifully, actually ahead in some areas. The back of her head is somewhat flat, although not extremely. Her pediatrician gives her glowing reports and said not to worry about the ear, the only thing that has been brought to his attention, to date. I am concerned about possible syndromes, Zimmerman-Laband in particular. Could you please help? View Answer |
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2007-01-15 |
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I am a father of 4 daughters and a son. My wife is my cousin. My son is a (yr old now suffered recurrent chest infections at infancy till 6 m of age where diagnosed to have isolated swallowing disorder (palato-pharengeal incoordination). He required gastrostomy tube feeding for the 2 yrs where he overgrew this problem and starts to tolerate oral intake. during the coarse of his investigation ,MRI of the brain showed arachnoid cyst resembling huge cysterna magna which was passed as incidental finding. However at age of 3 yrs he had an episode of partial seizure that lasted for 45 minutes involving his rt. upper limb and jaw. During which he was conscious but not communicating with tonic colinic convulsion. He required no treatment and has no recurrence to date. My youngest daughter, 1.5 yrs old, has sever failure to thrive since birth secondary to severe gastro esophageal reflux failing medical therapy till age of 9 month where she had fundoplication and gastrostomy for feeding. She also has some swallowing disorder for very thin fluid only but has very strong cough reflex to clear her chest. Both have reactive airway disease requiring inhaled steroid and bronchodilators. She tolerates semi thick diet now. Lately she started to have an episode of life threatening events while asleep-required CPR for respiratory arrest in 3 different occasions out of 7 events. Her work up so far showed maintained stomach wrap with tight fundopliation. GERD does not explain these episodes fully. Seizure disorder is entertained as causation. However no convulsive disorder was observed in any of these episodes. She was found to have a central arachnoid cyst by MRI of the brain. Worth to mention she had very small VSD that closed spontaneously at less than 1 yr. Both have no dismorphic features, has normal intellectual function. The other 3daughters are normal. Is this a genetic disorder? View Answer |
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2007-01-10 |
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I have a son born eith an extra thumb, a VSD and an umbilcal hernia. He has progressed well and is in the 95 percentile for height and weight and the 50th percentile for head circumference. I was just wondering if you knew of any syndromes that involve these things. My son has been to a geneticist, but he did not do anything but a physical exam. My son is 4 months old.
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2007-01-04 |
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I have a 5yr old daughter,(dob 10/27/01). She is CH, ultrasound shows absent gland. She was dx w/mild atuism and hypotonia. She has slurred speech and disorganized thoughts as well as she moves very slow. I have an aunt with schizophrenia (dx in her 20's). I have found many doctors say that her CH has nothing to do with her developmental problems because she started hormone replacement at 2wks old. Is this true? Or has this been misunderstood by doctors? My online research pulls out a mix bag of findings.Could all my childs developmental problems be from the CH? Also, on another note, should I have gene research done to address the family history of schizophrenia and is it possible that my child is at risk? View Answer |
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2007-01-02 |
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I have a 14-year-old son who carries the diagnosis of type I diabetes, Common Variable Immunodeficiency, epilepsy, spinal syrinx, and asthma. He has been very ill for 3 years and usual treatment for the above diseases has been unsuccessful. He is deteriorating and his symptoms are headache 9/10, back pain 10/10 w/scoliosis, dizziness, off balance (he has to use a cane), eye pain and photophobia, painful outer left ear, smelling things wrong, sore and stiff neck, intermittent trouble breathing, occasionally unable to initiate a swallow, abdominal pain and loss of appetite, and he has started to accidentally bite his tongue and lips when he chews. He has lost approximately 40 pounds and is very pale, weak and thin. We have consulted many doctors who are perplexed about his symptoms. Blood tests and MRIs are relatively normal (not entirely but nothing to suggest a diagnosis or exact cause for symptoms) although with his immunodeficiency, it is difficult to tell if blood tests are actually negative. His brother who is 9 has type I diabetes and similar symptoms though not as severe. There is nothing about their appearance to suggest an abnormality and they are both left-handed. We have a remote family history of Noonans syndrome, Factor V Leiden, a great-aunt w/some type of non-malignant brain tumor, a lot of cancer in paternal side of family but my siblings and my husband's siblings (other than father's sister as above) are healthy. No cousins with similar health problems. Is there anything that his symptoms bring to mind that would be this difficult to diagnose? Also would a lumbar puncture be indicated and if so what tests should be performed on the cerebrospinal fluid? (He had one to test for pressure--24 high--but they didn't test the cerebrospinal fluid.) Thank you. View Answer |
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2006-12-31 |
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My daughter has had seizures since birth, progressive symptoms including developmental delay, hypotonia, perioral rash, hypersalivation and GI issues that improve after seizures and become progressively worse leading up to the next episode. When very ill she has had abnormal blood tests showing hyperammonia, methylmelonic acid and lactic acid that returned to normal when retested (she was well at the time). I have been told that she has epilepsy and we will probably never know what the cause is. Unfortunately, she is having more severe episodes each time she is ill. My question is whether it may be warranted to pursue a metabolic diagnosis in another medical community. My intuition tells me that this is the key but her current providers are not pursuing a diagnosis. View Answer |
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2006-12-01 |
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My child has the following characteristics.
Born (11/21/00) Characteristics
? Skin Tag ? Saw a ENT at 22 months and removed tag identified as part of ear cartilage.
? Undescended Testicles ? Had out patient surgery at 22 months. Was able bring down one testicle.
? Kidney ? was born with one kidney. Tests (10/06) indicate functioning ok.
? Lazy Eye ? Left eye is weaker than the right, examined to have a 20/50 vision
? Heart Murmur ? Diagnosed September 2006. XRay done 10/06; heart appears normal.
? Difficulty digesting vitamins/minerals ? Diagnosed October 2006 blood test results. Vomiting once a month ? vomits 3-4 times in that day with mild fever and lethargic. Once he is over, he is back to normal.
? Has not grown past the size of a normal 2year old
What type of condition does he have? View Answer |
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2006-11-08 |
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We are suspecting that our 16-month-old daughter may have a genetic syndrome. She has a hypoplastic thumb on the left which is proximally placed and has limited range of motion. Her left wrist seems weaker and more flexible than the right and is missing a radial pulse. She has 5th finger clinodactly bilaterally which is more pronounced on the left. She also has an unusual creasing pattern to her fingernails which excludes the thumbnails. She is otherwise deveolping normally mentally and physically. There is no family history of heart or limb defects. What conditions could this be? View Answer |
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2006-10-16 |
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My child is 12 and she has been to a genetic dr. about 5 years ago b/c she has broad thumbs/ short digits, but I was told she did not have anything. But she keeps having little things that worry me. She started out with having to have bilateral reconsturction of her ureters at 11 wks / she has 2 1/2 kidneys, strabismus, heavy menstural cycles, abnormal bicuspid pulmonary valve, tailbone is shaped funny. Should I have her retested? Thanks View Answer |
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2006-09-28 |
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My grandson is 10 years old. Has very poor upper body strength. He tested dyslexic. His upper body is disproportionate to his lower body.(legs short compared to upper body.) He has speech problems, had speech therapy but it did not solve his problems. His mom and I have discussed this and are wondering if this should be mentioned to his pediatrician. View Answer |
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2006-09-23 |
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My 16 month old son is being recommeded to see a geneticist and to have an MRI by his pediatrician. He had open heart surgery (2 VSDs, 1 ASD and coarctation of the arota repair) at 6 weeks. He was born small and has grown (on his own chart), but is still small (5th percentile). He had a CT scan because his head is small but proportionate to his size as his pediatric cardiologist states. Since the CT didn't give much details (possible underdevoloped corpus callosum) and will now get an MRI with sedation. He acts like a 16 month is supposed to, but is just a skinny kid. I have Crohn's disease and my husband was the same build as our son is now. Could you give some insight on what kinds of tests will be done by the geneticist? View Answer |
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2006-09-14 |
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My son was born with a large hole in his heart (VSD) and had to have open heart surgery at the age of 3 months. Plus, he has a double thumb on his left hand (Polydactyly). What type of diseases are associated with his two conditions and where can I find information. Thank you. View Answer |
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2006-09-14 |
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Hello,I want to approach my son's Pediatrician about seeing a Genesticist. But, I wonder if I am wrong about my gut feeling. My son is now 13 months old, he weighs 16.2 pounds. His birth weight was 5.13. He gets a lot of colds and gets weezie (he takes breathing treatments). Every time he gets a cold he vomits 2-3 days. He seems to get a cold 1-2 times a month that will last 4-8 days. He is loosing weight. He breaks out with Eczema from time to time. He is alert and is active when he is feeling well. He is growing his third tooth. He is crawling, climbing, walking around while holding on to items. This past month I have been supplimenting his whole milk by adding Carnation Instant Breakfast, he has been eating well (pasta, rice, chicken, beans, fruit, veggies, pancakes, potatoes, cheese, yogart, eggs, whole milk) He lost 4 oz. this past month. His Pediatrician wants me to see a Nutritionist and suggested I feed him cupcakes. This is my 2nd child and I think I am doing the proper things when it comes to feeding my son. My first son was chunky and didn't have any of these problems. In the back of my mind I wonder if there is a battle I am fighting that I'm not aware of. Why does he get sick so often and why is it so hard for him to to gain weight? He does not go to daycare but goes to an inside park every once in awhile. I was recently diagnosed with Hashimoto's Disease. Could this autoimmune disease have effected my son during pregnancy? Should I approach my Pediatrician about seeing a Geneticist? Thank you for your time. View Answer |
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2006-09-10 |
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I am not sure if I am a mother of a child with a genetic condition. My son is 19 years old and was born with a very large cystic hygroma. My other children recently asked if it is hereditary. At the time of his birth, I could find no information as to whether it was a genetic anamoly or not. I believe since then there has been more research in this area and I was wondering if you could provide me with the answer. I think this is valuable information for my children. View Answer |
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2006-09-10 |
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i was told that my son has a hypoplastic thumb, he also when born had hypospadia. He also has a sacral dimple. I was wondering if this may be some syndrome and there may be more that I should know.
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2006-09-08 |
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My 7 month old daughter has been very slow to meet language/communication milestones, was born two weeks early, and has one eye which is slightly wandering but is "within normal limits." Are there any syndrome's that we should be watching for? We have seen an audiologist and an opthalmologist, we aren't sure if genetic counseling is our next step. View Answer |
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2006-08-15 |
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My daughter at 5 months started displaying nystagmus and roving eyes. She stopped hitting her milestone with rolling over and all that. She was diagnosed - hypotonic, however that is the only diagnosis. Her MRI, EEG blood and urine tests all came back normal. She had a choromsome test done and 56 cells were normal and on the last 4 cells the X chromosome seemed to be abnormal. The lab said it could be lab error, a marker chormosome, a abnormality on a part of the chormosome that does not matter. She had a biopsy done and we are not waiting results, which will take a few months. Since her eyes started to vibrate they have now stopped (7-8 months). She tracks things but not that well, we have always known that she had vision she just does not seem to understand her vision. After some therapy she can hold herself in the sitting position but will tip over. She does not grab for things although she will track black and white cards and some toys. Once in awhile she will laugh at things she sees. She does have a play gym that she lays under and she kicks the ball and reaches for toys. She is really mellow and layed back. There is nothing in my side or my husband's side that we know of. Neither of us actually have anything. I have one cousin who had sensory issues as a toddler. He is 16 and is fine now. My question would be have you had any cases similar to this? Do you know what this is? Thank you for your time. View Answer |
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2006-08-11 |
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I am the parent of an 8-year-old daughter who, my pediatrician strongly feels, has a genetic disorder. I have tried for several years to link together the mild defects she has, without success. I will begin with her birth history. She was born at 42 weeks gestation with my pregnancy being normal with the exception of pregnancy-induced hypertension in the last few weeks of the pregnancy, although nothing serious. My labor was induced after an MD visit due to no signs of impending labor, being "overdue" and elevated BP. I was given Pitocin upon admittance to the hospital and spent the next 3 DAYS in labor, progressing very little, even with Pitocin. On the third day, the OB broke my water and found thick meconium. I received an amnioinfusion for the next day and a half. As far as I am aware of, my daughter only had one deceleration in heart rate during labor in which I was administered oxygen for and her heart rate rose. She was born via C-section after I was unable to deliver vaginally due to her being turned. She suffered no meconium aspiration. On the third day of hospitalization she was diagnosed with a ventricular septal defect, just small enough not to need surgery. It closed withing 8 weeks of her birth. She also had an "ear pit" on her right outer ear, which the pediatrician said would close by elementary school age. She still does have that. Also upon her first dental exam, the dentist informed us that our daughter was missing four permanent teeth. And finally, she has had delayed bladder and bowel functioning. She still has bladder and bowel accidents at eight years old. She has been diagnosed as"developmentally delayed" after school psychologists ruled out autism, asperger's syndrome and Tourette's. She has a very emotional personality, has all signs of ADD (very distractible) and is currently in special education. She was delayed in walking (16 months old), crawling, talking and other gross motor functions. She has much difficulty with writing (fine motor) and receives OT. As her mother, I have no genetic problems in my side of the family. Her father, a physician, has no genetic abnormalities either, although he and his brother both have extremely high IQ's and members of MENSA. Her father also has a history of alcoholism (we are now divored) which I discovered after our daughter was conceived. Any direction in which you can lead me will be greatly appreciated!!!.
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2006-08-09 |
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I have a 12 year old son with an 'unidentified genetic syndrome'. Are there any resources I can use to try to find any syndrome which matches his symptoms/characteristics (seizure disorder, mental retardation, growth delay, microcephaly, oomphalocele at birth, physical characteristics)? I would like to be able to input his symptoms/charcteristics and get a list of possible fits instead of combing through every genetic disorder that has been indentified. It is like finding a needle in a haystack - I just need a starting point. He has seen a couple of different geneticists without any luck. I would just like to try to a bit of research on my own. Thanks! View Answer |
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2006-08-02 |
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I have a condition but I am not sure of the name and was wondering if my symptoms or story would sound familiar to any geneticists out there. I will provide what I know. I was born about a month late in the early eighties through an emergency c-section and weighed 10 pounds. Early on I had trouble sitting up as a baby, didn?t move very much and cried unless I was held. When I didn't start crawling and walking at a normal age my parents took me to the doctors who said I most likely had some form of muscular dystrophy. They told my parents that I would most likely never walk and would be confined to a wheelchair. Luckily they were wrong. My mom started physical therapy on me and I began to crawl and that is when the doctors asked the do a biopsy and remove a chunk of thigh muscle to name my disease. My mom asked if once they named my disease if there was any treatment and they said no so she refused. This is why I do not know the name of my possible condition. The doctors told her that they thought with each layer of muscle I grew a layer of fat and that is why carry so much weight. They said I would have about half the muscle most women and exercising would be difficult for me. In the late eighties the doctors did a DNA test where they found something wrong with my chromosome 17. I now am 24 and relatively healthy. If you could see me you would notice a weight problem and that is about it. I have low blood pressure but do suffer from migraines and hypothyroidism. I have tried to do research on disease of the muscle concerning chromosome 17 but I really didn?t fit any of those descriptions. I don?t have any mental retardation, quite the opposite completing two college degrees. I would like to know if what I am describing sounds like any known condition/disease and if there are any treatments that could improve my muscle strength and help me loose weight. I am also interested if my condition would be passed on if I have a child. Thank you for your help. View Answer |
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2006-08-01 |
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I have situs inversus I am 50 years old, gone through menopause, Domestic Violence and diagnosed with major depressive disorder recurrent, my mother had ensephalitis when she was pregnant with me, I have never been examined completely for my situs inversus, the doctors make a note of it and check my heart, and confirm it. They discovered it when i was born. I have 2 children and neither one of them have it. I would like to more on my condition, and how rare is this, will it effect the rest of my life should i be wearing a medical alert bracelet. arw their grants out there for people like me available. supposedly I am a mirror image, but how do they know that if they have not examined all of my organs, does this effect my brain. I would appreciate some feed back . thank You View Answer |
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2006-07-26 |
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I am a dermatologist at Walter Reed and NIH, just returning from a project with the Ministry of Health in Fiji. On an outer island, I examined two brothers (11 & 16), offspring from a consanguinous marriage, who had morbid obesity, profound hyperphagia, and microgenitalia. Seemed to be Prader-Willi syndrome but I'm not aware of this being familial.
The feature that I couldn't account for was a progressive neuromuscular degeneration. At age 10, each boy became unable to walk over about one year. Younger boy crawls in a bizarre manner unlike any tetrapod I know, seemingly due to profound weakness, but I'm not sure if it is a Duchenne-like motion. Older boy is virtually immobile and cannot lift hand from ground ... must use fingertips to drag his hand across floor. He lays on floor mat all day and requires mother to feed and clean him. His voice is weak and when he wants to roll over at night, he must cough to produce a sound that will alert his mother. Parents claim they were bright kids when they were in school and that they still have friends ... but I wonder
I have more details and some photos but am not sure what these kids have -- and whether it is something new and worthy of intervention or study. View Answer |
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2006-07-25 |
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My son has an extensvie medical history. He just returned from Cincinnati Childrens where Dr. Alberto Pena performed a TransAnal Resection of the Rectum. He has had 5 sweat test with at lease 3 being abnormal. Was tested by Ambry for the 1000 mutations of CF. None were found, but was found to have the 9t/9t poly t variant Colon and bladder has limited function, has learning disabilities. Has had two rectal prolapses (the reason for surgery at CCH). Has lost a total of 2 feel of his colon. Is having to self cath every 3 hours. Has had a FISH-no major deletions. Should he be seen by a Geneticist? Thanks. View Answer |
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2006-07-23 |
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My mother, born in 1909, had an older sister who, according to what my mother told me, grew normally until she reached the age of six months. Then her growth stopped. The sister died at the age of thirteen, still the size of a six-month old child. I have a picture made after her death, something that was not uncommon in 1912, the year she died. My mother told me the only thing that grew was the sister's hair, and the long braid of hair was cut off and saved after the child died. I have seen this myself. Although my mother did not know of a name for this condition, she said the family thought the baby might have had some form of "infantile paralysis" that may have caused her growth to stop. Do you think this could have been what is now called Turner Syndrome? I would appreciate any thoughts you might have on this. There have been no other children in my family with such a condition, as far as I know. I am now 74 years of age, and her condition still puzzles me. Thank you for any light you can shed on this. View Answer |
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2006-06-25 |
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my child at 51/2 weeks presented with hypotonia, lethargy,poor feeding. Many test were conducted all came back negative.Except somewhat elevated ammonia levels. He was admitted, started on pedialyte for 24 hrs. after the first bottle of that he improved. The week following he had what I thought was absence or mild seizures, they lasted only that week. He is now on prophree mixture even though his test were negative. Could he have a metabolic disorder even if the test were negative? Now at 4 months he cannot lift his head. All we hear is wait to see if something presents itself... What are the possibilities? Why are we on protein free mixture if the test are negative? How can I rule this out or confirm it? View Answer |
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2006-06-02 |
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A 20 month old baby had an A.LT.E. ( Apparent Life Threatening Event... Infant Apnea) incident at 3 mo. of age. subsequently on ventilator, feeding port. child is deteriorating slowly 1 step forward, 2 steps back. Somtimes sleeps 20 hours/ and stops breathing up to 10 times a day and needs to need "bagged"/ also child is ataxic and has blood pressure problems. Doctors are at a loss (and have pretty much washed their hands of this child who shows intelligience, is trying to communicate, and still working to progress physically ( relearned to roll over. She was gentically tested about a year ago, but it showed nothing abnormal... have their been enough changes within the last year in the field to warrant retesting/review? What about parental testing? Any value in that? Any suggestions in directions to look for further help would be greatly appreciated. There is no identified cause of her problems. View Answer |
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2006-05-31 |
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My daughter was born 1969 appearing to be very healthy baby with one exception she was ill very ill before the age of one year they gave her some antibiotic then she was fine.until her teeth started to grow in and they appeared very rough and looked much like sea coral. I was advised that I should crown them each as they came in and wait until her permanent teeth came in and they would be normal.The Dr. said it may be a genetic calcium problem. When her permanent teeth grew in they were small for her mouth and thin but was told this was good. My daughter has taken extreamly good care of her teeth with no problems until now at the age of 37yrs her teeth are crumbling out of her mouth ,all her teeth are sharp and jagged some almost to the gum leval and she can chew very lightly on one side. She is a high ranking teacher and cosmeticly as well speaking to large classes has become difficult in every way. Serious depression has set in and the situation has now come to my attention, she has been very quite about this and has now told her mom. Please give me some direction in this matter as well what is this defect called. I was told only that it was gentic when she was a child and that this would go away when the permanent teeth began to come in. My heart is crushed as she is not only a speaker but is involved in her secound passion and that is music ,her voice is truely a remarkable instrument that blesses children and adults alike. She continues to be in denial ,yet just today she shared her heart filled with tears and embarassment. Please get back to me and let me know what we might be fighting. View Answer |
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2006-05-23 |
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My son is 7 weeks old. He has several fractures, and slight hemridging in his brain. I think he might have osteogenesis imperfecta his skin turns real dark red when he cries, and he always sounds congested could these be symtomes? View Answer |
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2006-05-17 |
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We have been told my son (21 months) may have a mitochondrial disorder but nothing has been done to diagnose him further. We are stationed in England with the military and have had a horrible time with the care here. My son has had abnormal blood and urine tests for almost a year now and the "specialist" here now is saying that he most likely has a psychological issue. His alk phos came back this last time at 196 U/L (ref 50-136) and he has had a lactate of >160.00 (ref 0.8-54.0) and pyruvate of 10.4 (ref <=9.7). He has had numerous other abnormalities and all seem to point to a mitochondrial disorder. At this time, they don't want to even test him further for any issues except psychological. His presenting symptoms are small trembles throughout body, loss of balance, lack of appetite, protein aversion, combativeness, inconsolable crying, some developmental delays, sleeping on average of 16 -18 hours a day, drinking on average of 60 oz a day and is FTT. He is 22 lbs and 32 inches. Should we continue to push for a diagnosis or just accept their "psychological issues" statement? View Answer |
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2006-05-03 |
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My son is five years old. He currently receives occupational therapy for fine motor skills delay and low muschle tone. He also receives speech therapy. He is also shy, very sensitive, unassertive and anxious about certain things like if he will live at the same house for his whole life, if he will be able to keep his toys his whole life and death. I really didn't give any of those things much thought other than I was glad we were addressing those needs in therapy. All that changed when I happeded to come across a website related to Klinefelter Syndrome. I am now wondering if that could be the underlying cause of his issues. I am now questioning whether I should have him tested in light of all the other issues both physically and acamemically, etc that could develop as he gets older. Should I have him tested and could our pediatrician do it or would we be referred to a geneticist or other doctor? View Answer |
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2006-04-30 |
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My daughter is 17 months old she is 32 pounds and 29 inches. She has central obesity and a round face. She is not yet crawling or walking. I am very consered I have been to a geneticist but the test she tested for came out negative. Prader willies, albrights and her chromosones are normal. She is developmentaly delayed. The geneticies said her 4th and 5th metecraples are short. Other than reflux and pnemonia 3 times in a year she is healthy, her heart they have said is fine and the only lab test that came back abnormal was her acth was 52 normal being 27. So they tested her for pituitary tumor but it came back negative the only thing they said was her pituitary is smaller than normal. If you have an ideas what this could be please email me I am soooo concered. View Answer |
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2006-04-15 |
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My daughter has been diagnosed with microcephaly, hypotonia, slow weight gain, delayed development and seizures. We have consulted with many many doctors and have gone through test after test, including the dna test for Angelman's Syndrome with no answers. I was just wondering if someone there had any type of information for me. It gets frustrating not having any clues.
Thank you! View Answer |
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2006-02-21 |
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My son is just under three and he has been going to doctors his whole life to find out what is wrong symptoms are developmentally delayed at the rate of a 10 month old child right now. He cannot walk or cannot talk, and had feeding problems from birth. Does not sleep well. No communication verbally but yelling and no words. He has had seizures since about 6 months old and has worn glasses since then also. The neurologist said his seizures were palmer seizures and they do not effect his brain no anti seizure medicine has ever been given even though he still has them when he gets excited. About 15 to 20 times a day. My son is very happy all the time also he is the smiling baby. Please help me to figure out what is wrong with my baby.
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2006-02-18 |
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I have a baby boy who is already 9 mths old with cerebral atrophy on MRI scan done recently. He has swallowing difficulty (currently on ng tube feeding), spasticity on both legs, hypertonia and global development delay. He also has severe skin problem with blister and bleeding on the scalp and face only but severe eczema on the legs and hands and back of the body. Overall body skin is dry - his skin has actually peeled off in sheets as a newborn. He also has failure to thrive. My geneticist actually suspected 2 things:1) Sjogren-Larsson 2) Metabolic disorder which yet to identify which type. Kindly advise if you know of any syndrome or disease with the above symptoms. View Answer |
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2006-01-26 |
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My 15 yo daughter was born with multiple congenital defects such as imperforate anus, hydronephrosis, tethered spinal cord, spinal anomalies, and has just recently been diagnosed with agenesis of the vagina and uterus. Is there a chromosomal disorder that these diagnosis collectively fit? View Answer |
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2005-09-14 |
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My daughter had a son from her first husband that was born with microtia/atresia of the right ear. He is severely mentally retarded, autistic and has no speech. Her husband was on oral Accutane and she was on topical Accutane at the time of conception. Her second child by her second husband was stillborn in her 8th month of pregnancy. He had a two-vessel umbilical cord, multiple heart problems, total situs inversus, no gall bladder and a multi-lobated spleen. The autopsy report said the chromosomes were normal 46,XY. They desperately want to try again and the doctor did not seem to see any reason why they shouldn't. Since the baby's chromosomes were normal, does that mean that the parents chromosomes are normal too? Should they have any additional testing? View Answer |
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2005-09-14 |
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My daughter is 2 years old now. These are the symptoms: cleft palate of the soft and hard, VSD with congestive heart failure at 3 months, misshapened ears with severe hearing loss corrected with bone conductive aid, no deletion of chromosomes, kidney function is normal, mandibulofacial dysostosis, gastrostomy tube, small OFC, microcephaly, developmental delay, and does experience constipation but I believe that is due to her Pediasure diet of 180cc 6x a day. Can you give me a diagnosis? View Answer |
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2005-09-14 |
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My daughter is 4 days old; the one side of her mouth drops down when she cries; the pediatrician said she believes she has a chromosone disorder and referred her to a neurologist. When looking at her you do not notice anything until she cries, which seems a little high pitched. I am very upset and would like to know what the possibilities are with this symptom. Her body is perfect, she looks exactly like my son did when he was born except for the dropping of the one side of her mouth. View Answer |
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2005-09-14 |
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My niece has been ill since birth and she is now 16 months old. The doctors are leaning towards something genetic but have yet to find out what. I am hoping that someone will help us out. This has been very difficult for my sister who is terrified to take her home again without information concerning her health. Like I said she is 16 months old, has a large head, protruding forhead, small nose, small fat hads with really short fingers. She has very scary seizures and even worse blank spells where no matter what you do she does not know you exist for several minutes. Her nose is always running and she has a wheezing sound kinda like asthma. Her oxygen level drops to the low 80s when she is sleeping, her ears are so full of wax that the doctors have been trying to clean them with some solution since she was admitted almost 2 weeks ago and it still has not done a thing to help her ears. She snores and has a constant respiratory infection; her bowel movements are never quite the same loose one day constipated the next. She has a large bubble belly and is very particular about her food texture (she won't eat any pasta). No one in her family smokes and when a friend comes over they must always smoke outside. She is the smartest little girl I have seen for her age and even though her features are very distinct she is truly beautiful. I have only listed the symptoms that I can remember but I know there is more. If you have any answers to help us help the doctors look in the right direction, we would appreciate it. View Answer |
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2005-09-14 |
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We have two children that have multiple problems, mostly very mild. My 17 year old son has a history of peripheral neuropathy, pes cavus, hammer toes, extremely tight hamstrings, an S curvature of the spine, multiple food allergies (chicken, turkey, fresh fruit, fresh vegetables, seafood, almonds, and some combinations to foods), ADD, exercise induced asthma, and learning difficulties. My 9 year old daughter has a history of ADHD(no behavioral issues at school), dyslexia, visual perception difficulties, seizures (infrequently, and not treated), anxiety disorder, fine motor delay, and a tremor. She wakes during the night occassionally and vomits (usually only one time, never during the day, and is fine afterwards), she also has a lot of learning difficulties (obviously). My husband and I both had some learning issues, and possibly may have had a diagnoses for that if it was pursued at that time in our life. There is not a family history of any of the other problems that our children have. How would genetic counseling help us, and what would we do with the information derived from it? View Answer |
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2005-09-14 |
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