Cerebro-hepato-renal syndrome. A newly recognized hereditary disorder of multiple congenital defects, including sudanophilic leukodystrophy, cirrhosis of the liver, and polycystic kidneys.
作者： Eberhard Passarge , A. James McAdams
DOI: 10.1016/S0022-3476(67)80205-1
关键词:
摘要: A newly recognized hereditary disorder is described; it consists of congenital malformations the central nervous system, liver, and kidneys. The main features are (1) severe generalized hypotonia, (2) characteristic craniofacial dysmorphia, (3) hepatomegaly, (4) cortical renal cysts. Neuropathological examination two infants revealed macro- polymicrogyria sudanophilic leukodystrophy. Other findings may include moderately low birth weight, minor skeletal anomalies, heart disease, ophthalmic, possibly genital, anomalies. These children fail to thrive die in infancy. Five sisters described compared similar pairs siblings previously reported.
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