The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): Report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome
✍ Scribed by Moerman, Philippe ;Fryns, Jean-Pierre ;Vandenberghe, Kamiel ;Devlieger, Hugo ;Lauweryns, Joseph M. ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1988
- Tongue
- English
- Weight
- 579 KB
- Volume
- 31
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
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 cystic dysplasia. This combination of anomalies, also termed the Fryns syndrome, appears to be a distinct MCA syndrome with variable expression and probable autosomal recessive inheritance. Prenatal ultrasonographic diagnosis was successful in both patients.