脑眼面骨综合征
The cerebro-oculo-facio-skeletal syndrome.
作者信息
Grizzard W S, O'Donnell J J, Carey J C
出版信息
Am J Ophthalmol. 1980 Feb;89(2):293-8. doi: 10.1016/0002-9394(80)90127-0.
PMID:7355980
Abstract
A 3 1/2-month-old boy with the cerebro-oculo-facio-skeletal syndrome had low birth weight, microcephaly, microphthalmia, cataracts, blepharophimosis, high nasal bridge, micrognathia, kyphosis, rocker-bottom feet, and a longitudinal foot groove. The product of a consanguineous parentage, he showed marked developmental retardation, suggesting abnormal recessive inheritance.
摘要
一名患有脑眼面骨骼综合征的3个半月大男婴出生体重低，有小头畸形、小眼症、白内障、睑裂狭小、鼻梁高、小颌畸形、脊柱后凸、摇椅底足和纵行足底沟。他是近亲结婚的后代，有明显的发育迟缓，提示为异常隐性遗传。
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