成骨不全-视网膜病变-癫痫-智力障碍综合征

定义 英文原文（暂无中文）

A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994.

别名

Al Gazali-Nair综合征

基本事实

遗传方式

未知

发病年龄

婴儿期、新生儿期

患病率

<1 / 1 000 000

临床表型 8

外部标识与链接