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The Ectrodactyly‐Ectodermal Dysplasia‐Clefting Syndrome (EEC): Report of Five Cases
Author(s) -
Bigatà Xavier,
Bielsa Isabel,
Artigas Merce,
Azón Antoni,
Ribera Miquel,
Ferrándiz Carlos
Publication year - 2003
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1046/j.1525-1470.2003.20203.x
Subject(s) - ectrodactyly , ectodermal dysplasia , medicine , dermatology
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.