脑积水-小脑发育不全综合征

定义 英文原文（暂无中文）

A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth. The condition is fatal in the neonatal period. There have been no further descriptions in the literature since 1978.

基本事实

遗传方式

X 连锁隐性

发病年龄

新生儿期

患病率

<1 / 1 000 000

临床表型 5

外部标识与链接