Coffin-Lowry Syndrome

被引：1

作者：

Sanjeev R. Ahuja

Shubhangi Upadhye

Hemant V. Kulkarni

Madhuri V. Kulkarni

机构：

[1] Department of Pediatrics, L.T.M. Medical College, L.T.M.G. Hospital, Sion, Mumbai

[2] 14/B, Usha Sadan, Near Colaba Post Office

来源：

The Indian Journal of Pediatrics | 2003年 / 70卷 / 12期

关键词：

Coffin-Lowry syndrome; Mental retardation; X-chromosome;

D O I：

10.1007/BF02723830

中图分类号：

学科分类号：

摘要：

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.

引用

页码：1001 / 1002

页数：1

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