Beemer-Ertbruggen综合征

定义 英文原文（暂无中文）

Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984.

别名

致死性脑积水-心脏畸形-致密骨综合征

基本事实

遗传方式

常染色体隐性

发病年龄

新生儿期

患病率

<1 / 1 000 000

临床表型 13

外部标识与链接