Authors
Abstract
Background and purpose: Syndrom of Ellis-Van-Creveld is a tetrad of chondrodysplasia, ectodermal dysplasia, polyductyly, and congenital heart disease, of which chondrodysthrophy of the tubular bones is the most common feature, while central nervous system (CNS) and urinary tract anomalies are some of its rarer associations. The aim of this study was to determine the clinical presentation of this rare autosomal recessive syndrome.
Case report: Five cases reffered to Imam Reza hospital in Mashad for two years from 2002 to 2003. They were Iranian originally. First two cases, and 4 and 5, were sisters who presented all four classic features of EVC. Case 3 presented two features of this syndrome. The yougest was newborn and the oldest one was 11.5 years old.
Conclusion: We observed five cases of this syndrom during two years. This syndrome has no treatment. Respecting relative marriage culture between iranians, it is important for prevention of this syndrome by avioding kingsman marriage.
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