Fryns syndrome a presentation of two siblings with congenital diaphragmatic hernia
β 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 arrayβbased comparative genomic hybridiza
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