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baby Wesley, Fox Kaplan woman, Man who does not sweat Just as each had odd multiple symptoms that defied diagnosis and would appear to be unrelated ... And just as each of these seem to be unrelated to each other There is a common chemical exposure that could be what they were all dealing with Will this show be aired again? (Mystery Diagnosis Discovery Channel 1-4-07) Or may I see a write up of it? Exposure looks like the flu ... so the diarrhea, vomiting of the young man, the colds/flu that Mrs Kaplan kept having would make whatever ailed them worse ... even leading to the Liver issue 2-butoxyethanol overexposure is a blight on our world It is a teratogen chemical & can affect genes prior to birth If someone keeps getting exposed, what ails you can get worse, and new ailments add on I just recognize the pattern as I have spent a couple of years looking into it There are probably more symptoms that are there, too besides the ones you brought forward in your program Would you please forward this e-mail to each of the subjects in your program of Jan 4, 2007? Presidents and their wives are not exempt, nor do their doctors find the FATIGUE Laura Bush Congress needs to ban this chemical It is in widespread use & the real cause of Pres FDR's death Sincerely, Margaret Diann Box 233 Valdez, ALASKA 99686 907-835-3135 </SCRIPT> Please pass this on to Dr Joan Stoler Joan Stoler, MD. Dr. Stoler is a clinical geneticist in the Genetics and Teratology Unit of Massachusetts General Hospital with 10 years of clinical experience in ecogenetics, pharmacogenetics, fetal alcohol syndrome, and complex disorders. Dr. Stoler received her MD from Columbia University College of Physicians and Surgeons. She completed her clinical training in Pediatrics at the New England Medical Center Hospitals and her training in Genetics at the Massachusetts General Hospital. info@genesage.com
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Tel: 415-371-9500 Regarding Baby Wesley Beck ... Adrian & Mark Beck Joan Stoler, MD. Dr. Stoler is a clinical geneticist in the Genetics and Teratology Unit of Massachusetts General Hospital with 10 years of clinical ... ___________________________ Beckwith-Wiedemanns syndrom - Små och mindre kända handikappgrupper ... Perlmans syndrom, Simpson-Golabi-Behmels syndrom och Costellos syndrom). ... Screening for Wilms tumor in children with Beckwith-Wiedemann syndrome or ... ___________________________ Costello Syndrome Affects multiple parts of the body Costello syndrome is a very rare disorder that affects multiple systems of the body, causing short stature, characteristic facial features, growths around the nose and mouth, and heart problems. The cause of Costello syndrome is not known, although genetic mutation is suspected. In 2005 researchers at the DuPont Hospital for Children in Delaware (U.S.) found gene mutations in the HRAS sequence were present in 82.5% of the 40 individuals with Costello syndrome they studied. Only about 150 reports of Costello syndrome have been published in the worldwide medical literature, so it is not clear how often the syndrome actually occurs or who is more likely to be affected by it. Symptoms
Typical symptoms for Costello syndrome are: - difficulty gaining weight and growing after birth, which leads to short stature
- excessive loose skin on the neck, palms of the hands, fingers and soles of the feet (cutis laxa)
- non-cancerous growths (papillomata) around the mouth and nostrils
- characteristic facial appearance such as large head, low-set ears with large, thick lobes, thick lips, and/or wide nostrils
- mental retardation
- thickened, dry skin on the hands and feet or arms and legs (hyperkeratosis)
- abnormally flexible joints of the fingers.
Some individuals may have restriction of movement at the elbows or tightening of the tendon at the back of the ankle. Individuals with Costello syndrome may have heart defects or heart disease ( cardiomyopathy). There is a high incidence of tumor growth, both cancerous and non-cancerous, associated with the syndrome as well. Diagnosis
Diagnosis of Costello syndrome is based on the physical appearance of a child born with the disorder, as well as other symptoms that may be present. Most children with Costello syndrome have difficulty feeding, as well as gaining weight and growing, so this may suggest the diagnosis. In the future, genetic testing for known gene mutations associated with Costello syndrome might be used to confirm the diagnosis.
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