科芬-洛里综合征
Coffin-Lowry syndrome.
作者信息
Ahuja Sanjeev R, Upadhye Shubhangi, Kulkarni Hemant V, Kulkarni Madhuri V
机构信息
Division of Pediatric Neurology, Department of Pediatrics, L.T.M. Medical College & L.T.M.G. Hospital, Sion, Mumbai, India.
出版信息
Indian J Pediatr. 2003 Dec;70(12):1001-2. doi: 10.1007/BF02723830.
PMID:14719793
Abstract
The Coffin-Lowry syndrome is an established syndrome of severe mental and growth retardation, characteristic dysmorphic features and skeletal anomalies. The authors report a one and half year old boy with classical features of this syndrome. Early recognition of this condition is important for genetic counseling and prevention of progressive skeletal deformities.
摘要
科芬-洛里综合征是一种已确定的严重智力和生长发育迟缓、具有特征性畸形面容和骨骼异常的综合征。作者报告了一名具有该综合征典型特征的一岁半男孩。早期识别这种疾病对于遗传咨询和预防进行性骨骼畸形很重要。
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