CHARGE AND JOUBERT SYNDROMES - ARE THEY A SINGLE DISORDER

被引：18

作者：

MENENZES, M ^{[1
]}

COKER, SB ^{[1
]}

机构：

[1] LOYOLA UNIV,DEPT NEUROL,2160 S 1ST AVE,MAYWOOD,IL 60153

来源：

PEDIATRIC NEUROLOGY | 1990年 / 6卷 / 06期

关键词：

D O I：

10.1016/0887-8994(90)90015-S

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A patient with the CHARGE association (Coloboma of the eye, Heart defect, Atresia of the choana, Retarded growth and development, Genital hypoplasia, and Ear anomalies or deafness) had intermittent hyperpnea and cerebellar hypoplasia; therefore, he had both the CHARGE association and Joubert syndrome. The 2 syndromes have not been previously linked. We discuss their similarities and review the literature. © 1990.

引用

页码：428 / 430

页数：3

共 30 条

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