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Chondroectodermal syndrome or Ellis Van Creveld (EVC) is a rare autosomal recessive congenital disorder. It was first described by Richard W.B.Ellis and Simon Van Creveld in 1940. Parental consanguinity is present in about 30% of the cases. A large number of cases were reported in Amish population of Lancaster County, Pennsylvania USA and also in Aboriginal community of Australia in 1964. The incidence in Amish population is 1/5000live births and in general population 7/1,000,000. There are only 150 cases reported worldwide. The principal feature of this syndrome is a tetrad of disproportionate dwarfism, ectodermal dysplasia, bilateral postaxial polydactyly and congenital heart defects.
Asad Ullah Jan,, Sajjad Ahmad, Tehseen Ahmad Cheema,, Farman Ullah, , MuhammadWaqar, Baqir Hussain. (2018) CHONDROECTODERMAL SYNDROME, JOURNAL OF AYUB MEDICAL COLLEGE ABBOTTABAD, Volume 30, Issue 3.
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