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年轻患者中马丁-贝尔综合征临床特征的可变表达。

Variable expression of clinical features of Martin Bell syndrome in younger patients.

作者信息

Verma I C, Elango R

机构信息

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi.

出版信息

Indian Pediatr. 1994 Apr;31(4):433-8.

PMID:7875865
Abstract

The clinical features of 20 patients of Martin Bell syndrome were analyzed in order to derive diagnostic features in younger patients. The characteristic clinical features comprising long face, large ears and macro-orchidism were commoner in children more than 10 years old than in prepubertal children. This study shows that younger the patient, fewer the classical features exhibited. Hyperactivity was the most useful feature for diagnosis of the younger patient with Martin Bell syndrome.

摘要

对20例马丁-贝尔综合征患者的临床特征进行分析,以得出年轻患者的诊断特征。包括长脸、大耳和巨睾症在内的特征性临床特征在10岁以上儿童中比青春期前儿童更常见。这项研究表明,患者年龄越小,表现出的典型特征越少。多动是诊断年轻马丁-贝尔综合征患者最有用的特征。

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