糖尿病、智力发育迟缓、脂肪营养不良和畸形特征。
Diabetes mellitus, mental retardation, lipodystrophy and dysmorphic traits.
作者信息
Verloes A, Ernould C, Dubru J M, Malchair R, Koulischer L
机构信息
Centre for Human Genetics, Liège University, La Citadelle Hospital, Belgium.
出版信息
Clin Dysmorphol. 1994 Apr;3(2):160-3.
PMID:8055137
Abstract
We report on a mentally retarded girl with dysmorphic facies (hypertelorism, upslanting palpebral fissures, blepharophimosis, prominent teeth), who suffered from juvenile-onset insulinopenic diabetes mellitus and lipodystrophy. She could represent an undescribed MCA/MR syndrome.
摘要
我们报告了一名患有面容畸形（眼距过宽、睑裂向上倾斜、睑裂狭小、牙齿突出）的智力发育迟缓女孩，她患有青少年期起病的胰岛素缺乏型糖尿病和脂肪营养不良。她可能代表一种未被描述的MCA/MR综合征。
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