All issues > Volume 43(9); 2000

Case Report

J Korean Pediatr Soc. 2000;43(9):1269-1273. Published online September 15, 2000.

A Case of Fryns Syndrome

Jun Ho JH Kim¹, Jin Hwa JH Jeong¹, Sung Min SM Cho¹

¹Department of Pediatrics, College of Medicine, Dongguk University, Po-hang, Korea

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 hernia 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.

Keywords :Fryns syndrome, Dandy-Walker malformation, Renal hypoplasia