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2003•Pediatric DermatologyRequires access

The Ectrodactyly‐Ectodermal Dysplasia‐Clefting Syndrome (EEC): Report of Five Cases

X. Bigatà, Isabel Bielsa, Merce Artigas, A Azón, Miquel Ribera, Carlos Ferrándiz

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Abstract

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.

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What this paper is about

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.

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OpenAlex reports 23 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available abstract

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.

Key concepts: Ectrodactyly, Ectodermal dysplasia, Medicine, Dermatology

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