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Diaphragmatic defects, limb deficiencies, and ossification defects of the skull: A distinctive malformation syndrome

✍ Scribed by Froster, Ursula G.; Kolditz, Petra; Wisser, Josef; Robbiani, Mario B.; Stallmach, Thomas; Hebisch, Gundula; Huch, Renate; Huch, Albert

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 34 KB
Volume: 62
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960301)62:1<48::aid-ajmg10>3.0.co;2-v

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✦ Synopsis

We report on prenatal and postnatal findings in 4 consecutive fetuses with a pattern of severe congenital anomalies who were born to a healthy nonconsanguineous couple. The spectrum of malformations includes diaphragmatic defects, hypoplastic lungs, omphalocele, limb deficiencies, syndactyly of toes, and ossification defects of the skull. This specific spectrum of anomalies is not fully compatible with that of any established syndrome. No prenatal exposure to any possible teratogen was found. Family history is suggestive for autosomal recessive inheritance, even though germline mosaicism in one of the parents cannot completely be excluded.

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