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Genet Couns. 2005;16(1):75-83.

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

Author information

  • 1Department of Orodental Genetics, Division of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.

Abstract

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 cases of EVC syndrome. An unusual pattern of inheritance with father to son or to daughter transmission was observed in 2 consanguineous families thus demonstrating pseudo-dominant inheritance, probably for the first time in the literature. A new consistent orodental anomaly found in all our cases was bifid tip of the tongue. We emphasize study of orodental anomalies in future cases for accurate diagnosis of Ellis-van Creveld syndrome and its probable differential diagnosis from Weyers acrodental dysostosis.

PMID:
15844783
[PubMed - indexed for MEDLINE]
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