Megalocornea mental retardation syndrome: Report of a new case

被引：8

作者：

Barisic, I

Ligutic, I

Zergollern, L

机构：

[1] Department of Medical Genetics, Children's Hospital Zagreb, 10 000 Zagreb

来源：

JOURNAL OF MEDICAL GENETICS | 1996年 / 33卷 / 10期

关键词：

megalocornea; mental retardation; Neuhauser syndrome;

D O I：

10.1136/jmg.33.10.882

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Megalocornea-mental retardation syndrome (MMR) is a rare autosomal recessive disorder presenting with megalocornea, mental and motor retardation, hypotonia, seizures, short stature, and characteristic dysmorphic traits (MIM 249310). We present a new case in order to delineate with more accuracy the typical phenotype.

引用

页码：882 / 883

页数：2

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