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Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome

✍ Scribed by Bamforth, J. Stephen ;Leonard, Claire O. ;Chodirker, Bernard N. ;Chitayat, David ;Gritter, Hilda L. ;Evans, Jane A. ;Keena, Beth ;Pantzar, Tapio ;Friedman, Jan M. ;Hall, Judith G. ;Opitz, John M. ;Reynolds, James F.

Publisher
John Wiley and Sons
Year
1989
Tongue
English
Weight
774 KB
Volume
32
Category
Article
ISSN
0148-7299

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## Abstract Congenital diaphragmatic hernia (CDH) is a common and often devastating birth defect that can occur in isolation or as part of a malformation complex. Considerable progress is being made in the identification of genetic causes of CDH. We applied array‐based comparative genomic hybridiza

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We describe 2 sibs with the syndrome of diaphragmatic hernia, abnormal face, and distal limb anomalies. Both infants died shortly after birth with severe respiratory distress. Postmortem examination showed gross internal anomalies: Dandy-Walker malformation, ventricular septal defect, and renal cyst