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Are There Currently Any Studies Being Conducted On Vacterl Syndrome?

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Posted on Tue, 1 Apr 2014
Question: In 1993 our son was born w multiple anomalies and we were told he had VACTERS syndrome. He was born at 38 weeks and was delivered by c-section because he was frank breech. During pregnancy I had a single umbilical artery and gestational diabetes. He weighed 5 lb. and 11 oz. he immediately had tefistula repair. At 16 days he had repair of coarctation of aorta. He has one extra rib. The right thumb had no tendon attached and looks more like a finger. At age 5 he had a tendon transfer and web expansion to provide some opposition. Just before he turned 5 he was diagnosed with tethered spinal cord and had a laminectomy to repair. At that time he was also diagnosed with syringomyelia though he has not shown any challenges from this. He has 2 (or 3) fused vertebrae in his lumbar and 2 in the cervical spine. Currently he is 20 years old and seems to be physically healthy. He was diagnosed with an unspecified learning disability that limits his ability to understand sequential and processing issues. I have 2 questions. 1-are there currently any studies being conducted on VACTER syndrome? And 2- he has passed out twice in the last year for seemingly no reason. Should we be concerned and if so, what type of dr should we consult. His pediatrician has retired so I can no longer contact her for advice. One last interesting note: our second son was born in 1996 w tefistula, too. He has had no other problems. Our daughter was born in 1998 with no problems.
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Answered by Dr. T Shobha Deepak (2 hours later)
Brief Answer: Several studies available about VACTERL Detailed Answer: Hi Welcome to Healthcare-Magic Greetings of the day Being a Parent myself I understand your concern and apprehension. I discussed your case with my husband who is a Pediatric Surgeon and deals with congenital anamoloy and operates several cases of TEF. 5 percent of individual having TEF have VACTERL abnormality. In majority of cases it's associated with minor chromosomal abnormality. There are numerous case report available and also studies available and reported in many indexed journal like 1. Journal of Pediatric Surgery 2. Journal of Indian Association of Pediatric Surgeon 3. African Journal of Pediatric Surgeon Do let me know if you are looking for any specific study. It would be more helpful if you could elaborate on detailed sequence of events of passing out twice so that I can guide you further. waiting for your reply Take care Best Regards Dr T Shobha Deepak MBBS, MD
Note: For detailed guidance on genetic screening consult a genetics specialist

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
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Dr. T Shobha Deepak

General & Family Physician

Practicing since :2005

Answered : 1774 Questions

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Are There Currently Any Studies Being Conducted On Vacterl Syndrome?

Brief Answer: Several studies available about VACTERL Detailed Answer: Hi Welcome to Healthcare-Magic Greetings of the day Being a Parent myself I understand your concern and apprehension. I discussed your case with my husband who is a Pediatric Surgeon and deals with congenital anamoloy and operates several cases of TEF. 5 percent of individual having TEF have VACTERL abnormality. In majority of cases it's associated with minor chromosomal abnormality. There are numerous case report available and also studies available and reported in many indexed journal like 1. Journal of Pediatric Surgery 2. Journal of Indian Association of Pediatric Surgeon 3. African Journal of Pediatric Surgeon Do let me know if you are looking for any specific study. It would be more helpful if you could elaborate on detailed sequence of events of passing out twice so that I can guide you further. waiting for your reply Take care Best Regards Dr T Shobha Deepak MBBS, MD