The ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC):: Report of five cases

被引:13
|
作者
Bigatà, X
Bielsa, I
Artigas, M
Azón, A
Ribera, M
Ferrándiz, C
机构
[1] Univ Autonoma Barcelona, Hosp Germans Trias & Pujol, Dept Dermatol, Barcelona 08916, Spain
[2] Univ Autonoma Barcelona, Hosp Germans Trias & Pujol, Dept Pediat, Barcelona 08916, Spain
[3] Univ Rovira & Virgili, Hosp Sant Juan, Dept Dermatol, Tarragona, Spain
关键词
D O I
10.1046/j.1525-1470.2003.20203.x
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
We report five patients from two different pedigrees with the ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC). All had features of ectodermal dysplasia, but only three had limb ectrodactyly and orofacial clefting. The present patients illustrate the great phenotypic variability in the EEC syndrome. As no single feature, including any of the three cardinal signs, is mandatory for syndrome diagnosis, a meticulous examination of all family members is needed.
引用
收藏
页码:113 / 118
页数:6
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