癫痫-小头畸形-骨骼发育不良综合征

定义 英文原文（暂无中文）

A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996.

别名

Battaglia-Neri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 7

外部标识与链接