DIAPHRAGMATIC DEFECTS, LIMB DEFICIENCIES, AND OSSIFICATION DEFECTS OFTHE SKULL - A DISTINCTIVE MALFORMATION SYNDROME

We report on prenatal and postnatal findings in 4 consecutive fetuses with a pattern of severe congenital anomalies who were born to a healt hy nonconsanguineous couple, The spectrum of malformations includes di aphragmatic defects, hypoplastic lungs, omphalocele, limb deficiencies , syndactyly of toes, and ossification defects of the skull, This spec ific spectrum of anomalies is not fully compatible with that of any es tablished syndrome, No prenatal exposure to any possible teratogen was found, Family history is suggestive for autosomal recessive inheritan ce, even though germline mosaicism in one of the parents cannot comple tely be excluded. (C) 1996 Wiley-Liss, Inc.