睑裂狭小、上睑下垂与智力发育迟缓：Ohdo综合征的进一步界定
Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome.
作者信息
Melnyk A R
机构信息
Department of Pediatrics, Loyola University of Chicago Stricht School of Medicine, Maywood, IL 60153.
出版信息
Clin Dysmorphol. 1994 Apr;3(2):121-4.
PMID:7519949
Abstract
The Ohdo syndrome is characterized by blepharophimosis, ptosis, abnormal ears, and mental retardation. This report describes a child with the Ohdo syndrome who, in addition, has microcephaly and growth retardation. Her phenotype probably represents variable expression or genetic heterogeneity of the Ohdo syndrome.
摘要
大藤综合征的特征为睑裂狭小、上睑下垂、耳部异常及智力发育迟缓。本报告描述了一名患有大藤综合征的儿童，此外，该患儿还有小头畸形和生长发育迟缓。她的表型可能代表了大藤综合征的可变表达或遗传异质性。
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