大土井睑裂狭小综合征：第三例病例
The Ohdo blepharophimosis syndrome: a third case.
作者信息
Biesecker L G
机构信息
Department of Pediatrics and Communicable Diseases, University of Michigan Medical Center, Ann Arbor 48109-0718.
出版信息
J Med Genet. 1991 Feb;28(2):131-4. doi: 10.1136/jmg.28.2.131.
Abstract
A patient with a syndrome consisting of blepharophimosis, simple ears, hypoplastic teeth, developmental delay, and hypotonia is described. Previous case reports are reviewed and a differential diagnosis is described. Many of the features in the subject are similar to those described in two previous reports and they constitute a distinct syndrome.
摘要
本文描述了一名患有睑裂狭小、耳部单纯、牙齿发育不全、发育迟缓及肌张力减退综合征的患者。回顾了既往病例报告并进行了鉴别诊断。该患者的许多特征与之前两份报告中描述的特征相似，它们构成了一种独特的综合征。
Zotero 插件