脑积水-低插入脐综合征

定义 英文原文（暂无中文）

A rare multiple congenital anomalies/dysmorphic syndrome characterized by congenital hydrocephalus involving the lateral ventricles, low-set umbilicus, bilateral inguinal hernia, and mild facial dysmorphism (such as epicanthal folds, broad, flat nasal bridge, and small, bulbous nose). Additional reported manifestations include unilateral cryptorchidism, vesicoureteral reflux, and tetralogy of Fallot. There have been no further descriptions in the literature since 1993.

别名

Palmer-Pagon 综合征

基本事实

发病年龄

新生儿期

患病率

<1 / 1 000 000

临床表型 10

外部标识与链接