EEC SYNDROME WITHOUT ECTRODACTYLY - REPORT OF 2 NEW FAMILIES

被引：18

作者：

FRYNS, JP

LEGIUS, E

DEREYMAEKER, AM

VANDENBERGHE, H

机构：

[1] Centre for Human Genetics, University of Leuven, 3000 Leuven

来源：

JOURNAL OF MEDICAL GENETICS | 1990年 / 27卷 / 03期

关键词：

D O I：

10.1136/jmg.27.3.165

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In this report we describe two families with variable manifestations of the EEC syndrome. The findings in these families confirm that no symptom is obligatory for the diagnosis of EEC syndrome. In the absence of cleft lip/palate, EEC patients have a characteristic facial morphology with maxillary hypoplasia, short philtrum, and broad nasal tip.

引用

页码：165 / 168

页数：4

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