Journal of the Korean Pediatric Society 2000;43(9):1269-1273.
Published online September 15, 2000.
A Case of Fryns Syndrome
Jun Ho Kim, Jin Hwa Jeong, Sung Min Cho
Department of Pediatrics, College of Medicine, Dongguk University, Po-hang, Korea
Fryns 증후군 1례
김준호, 정진화, 조성민
동국대학교 의과대학 소아과학교실
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.
Key Words: Fryns syndrome, Dandy-Walker malformation, Renal hypoplasia

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