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Article

Unusual pattern of inheritance and orodental changes in the Ellis-van Creveld syndrome.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2005

Mostafa M I, Temtamy S A, el-Gammal M A, Mazen I M

Abstract excerpt

Ellis-van Creveld (EVC) syndrome (chondroectodermal dysplasia, mesoectodermal dysplasia, OMIM 225500) is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly and dysplastic nails and teeth. Oral manifestations tend to be pathognomonic such as multiple broad labial frenula and congenital missing teeth. In this study we report three Egyptian families with six...

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Identifiers

PMID: 15844783

Genes

EVC

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