虹膜缺损、上睑下垂、眼距过宽及智力发育迟缓：一种新综合征。
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.
作者信息
Baraitser M, Winter R M
机构信息
Hospital for Sick Children, London.
出版信息
J Med Genet. 1988 Jan;25(1):41-3. doi: 10.1136/jmg.25.1.41.
Abstract
To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation. The London Dysmorphology Database was used to determine whether this is a new syndrome.
摘要
两名同胞及一名无血缘关系的个体患者均患有虹膜缺损、上睑下垂、眼距过宽、鼻梁宽阔、身材矮小和智力发育迟缓的组合症状。利用伦敦畸形数据库来确定这是否为一种新的综合征。
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