ADDITIONAL CASE OF NEUHAUSER MEGALOCORNEA AND MENTAL-RETARDATION SYNDROME WITH CONGENITAL HYPOTONIA

被引：15

作者：

SANTOLAYA, JM

GRIJALBO, A

DELGADO, A

ERDOZAIN, G

机构：

[1] HOSP BASURTA,OPHTHALMOL CLIN,BILBAO,SPAIN

[2] UNIV BASQUE COUNTRY,FAC MED,DEPT PEDIAT,BILBAO,SPAIN

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 43卷 / 03期

关键词：

MEGALOCORNEA; MENTAL RETARDATION; HYPOTONIA;

D O I：

10.1002/ajmg.1320430321

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a 3-1/2-year-old Spanish girl with the Neuhauser megalocornea and mental retardation syndrome. A review shows that megalocornea, mental retardation, and, presumably, hypotonia, are the major manifestations for diagnosis. The facial appearance of the typical cases is characterised by frontal bossing, broad nasal bridge, mild hypertelorism, long upper lip, and small mandible.

引用

页码：609 / 611

页数：3

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