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Fryns syndrome a presentation of two siblings with congenital diaphragmatic hernia

✍ Scribed by Mohammed Joudi Aboud; Mohammed Mojar Al-Shamsy


Publisher
Springer-Verlag
Year
2011
Tongue
English
Weight
248 KB
Volume
27
Category
Article
ISSN
0179-0358

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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