Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: dominant inheritance and variable expression.

V B Penchaszadeh; T C de Negrotti

doi:10.1136/jmg.13.4.281

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Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: dominant inheritance and variable expression.

V B Penchaszadeh·T C de Negrotti

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Abstract

An infant is reported with a complete form of the ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome, inherited from his mother, who has a partial expression of the condition, without clefting. This observation stresses the phenotypic variability of the EEC syndrome, which in most cases is inherited as an autosomal dominant with reduced penetrance.

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Cleft Lip Cleft Palate Ectodermal Dysplasia Female Fingers Foot Deformities, Congenital Genes, Dominant Genetic Variation Humans Infant Male Pedigree Phenotype Syndrome Journal Article

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V B Penchaszadeh, T C de Negrotti. 1976. Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: dominant inheritance and variable expression.. https://doi.org/10.1136/jmg.13.4.281

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