A Case of Fryns Syndrome.
- Author:
Jun Ho KIM
1
;
Jin Hwa JEONG
;
Sung Min CHO
Author Information
1. Department of Pediatrics, College of Medicine, Dongguk University, Po-hang, Korea.
- Publication Type:Case Report
- Keywords:
Fryns syndrome;
Dandy-Walker malformation;
Renal hypoplasia
- MeSH:
Central Nervous System;
Dandy-Walker Syndrome;
Extremities;
Heart Defects, Congenital;
Hernia, Diaphragmatic;
Lung;
Nipples;
Thorax
- From:Journal of the Korean Pediatric Society
2000;43(9):1269-1273
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Fryns syndrome is a lethal syndrome of multiple congenital anomalies first described by Fryns et al in 1979. A recently developed major diagnostic criteria includes abnormal face, small thorax with widely spaced hypoplastic nipples, distal limb and nail hypoplasia, lung hypoplasia with diaphragmatic hernia, central nervous system anomalies and congenital heart disease. The pathogenesis of Fryns syndrome is not clear. Of the major immediate life-threatening abnormalities of this syndrome, lung hypoplasia associated with diaphragmatic hemia has usually proven to be fatal. We report a case of Fryns syndrome, which has the prenatal ultrasonographic findings of Dandy-Walker malformation and renal hypoplasia.
