MILLER-DIEKER SYNDROME WITH RING CHROMOSOME-17

被引：14

作者：

SHARIEF, N

CRAZE, J

SUMMERS, D

BUTLER, L

WOOD, CBS

机构：

[1] QUEEN ELIZABETH HOSP CHILDREN,DEPT CHILD HLTH,LONDON E2 8PS,ENGLAND

[2] QUEEN ELIZABETH HOSP CHILDREN,DEPT CYTOGENET,LONDON E2 8PS,ENGLAND

来源：

ARCHIVES OF DISEASE IN CHILDHOOD | 1991年 / 66卷 / 06期

关键词：

D O I：

10.1136/adc.66.6.710

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A girl presented at 6 weeks of age with failure to thrive and arching of the back. She had various dysmorphic features, hepatosplenomegaly, and developmental delay. The electroencephalogram and cranial ultrasound were abnormal, and a computed tomogram showed lissencephaly and apparent agenesis of the corpus callosum. Because of frequent aspiration she became oxygen dependent. She later developed intractable convulsions and died at the age of 9 months.

引用

页码：710 / 712

页数：3

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