AUTOSOMAL RECESSIVE MICROCEPHALY, MICROCORNEA, CONGENITAL CATARACT, MENTAL-RETARDATION, OPTIC ATROPHY, AND HYPOGENITALISM - MICRO SYNDROME

被引：90

作者：

WARBURG, M

SJO, O

FLEDELIUS, HC

PEDERSEN, SA

机构：

[1] HILLEROD HOSP,DEPT OPHTHALMOL,HILLEROD,DENMARK

[2] UNIV COPENHAGEN,HVIDOVRE HOSP,DEPT PEDIAT,COPENHAGEN,DENMARK

来源：

AMERICAN JOURNAL OF DISEASES OF CHILDREN | 1993年 / 147卷 / 12期

关键词：

D O I：

10.1001/archpedi.1993.02160360051017

中图分类号：

R72 [儿科学];

学科分类号：

100202 [儿科学];

摘要：

Three affected children from an inbred family had microcornea, microcephaly, congenital cataract, severe mental retardation, retinal dystrophy, optic nerve atrophy, hypothalamic hypogenitalism, and agenesis of the corpus callosum. The disorder is presumably autosomal recessive; no identical syndrome has been described, but we consider syndromes with similar features.

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页码：1309 / 1312

页数：4

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