一种身材矮小、智力发育迟缓、面部畸形、短蹼颈、皮肤改变和先天性心脏病的综合征。
A syndrome of short stature, mental retardation, facial dysmorphism, short webbed neck, skin changes and congenital heart disease.
作者信息
al-Gazali L I, Aziz S A, Salem F
机构信息
Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain, UAE.
出版信息
Clin Dysmorphol. 1996 Oct;5(4):321-7.
PMID:8905197
Abstract
We report four sibs from a consanguineous Arab Bedouin family with short stature, mental retardation, a peculiar face, a short webbed neck, skin changes and congenital heart defects. We suggest that the constellation of abnormalities in these children could represent a newly recognized syndrome.
摘要
我们报告了一个近亲结婚的阿拉伯贝都因家族中的四名同胞，他们身材矮小、智力发育迟缓、面容奇特、颈部短且有蹼、皮肤有变化以及患有先天性心脏缺陷。我们认为这些儿童的一系列异常表现可能代表一种新发现的综合征。
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