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Prenatal diagnosis of restrictive dermopathy
Sujatha Jagadeesh1, Lathaa Bhat, Indrani Suresh
1Department of Genetic Counseling, Mylapore, Chennai 600 004, India. fcrfchennai@yahoo.com
Indian Pediatrics
|April 23, 2009
Abstract:
We report three cases of Restrictive dermopathy from unrelated families. All were small for gestational age with small eyes and open mouth. Taut, stretched skin caused restriction of movements. Clavicular hypoplasia was a consistent radiological feature. Molecular diagnosis in the parents facilitated prenatal diagnosis from chorionic villous sample (CVS) in the subsequent pregnancy.
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