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身材矮小、中度智力障碍、多动、面部畸形、骨骼异常以及酮症加剧：一种新综合征。

Short stature, moderate mental retardation, hyperactivity, facial dysmorphism, skeletal abnormalities, and exaggerated ketosis: a new syndrome.

作者信息

Boneh A, Glick B, Gutman A, Mogle P

机构信息

Department of Paediatrics, Hadassah University Hospitals, Mt. Scopus, Jerusalem, Israel.

出版信息

Clin Genet. 1996 Nov;50(5):403-6. doi: 10.1111/j.1399-0004.1996.tb02396.x.

DOI:10.1111/j.1399-0004.1996.tb02396.x
PMID:9007332
Abstract

We describe three siblings who presented with short stature, hyperactivity, delayed speech and moderate psychomotor retardation. In addition, they had dysmorphic features, a peculiar combination of skeletal abnormalities, small kidneys and exaggerated fasting ketosis. We suggest that they represent a new syndrome. The possibility of end-organ receptor failure is suggested.

摘要

我们描述了三名患有身材矮小、多动、语言发育迟缓及中度精神运动发育迟缓的兄弟姐妹。此外，他们还有畸形特征、骨骼异常的特殊组合、小肾脏以及严重的空腹酮症。我们认为他们代表一种新的综合征。提示存在终末器官受体功能衰竭的可能性。

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