Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome
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Ellis-van Creveld syndrome (EvC) is an autosomal recessive inherited disease resulting from mutations in EVC1 or EVC2. Patients with this condition normally have chondrodysplasia, postaxial polydactyly, ectodermal dysplasia and congenital heart defects. We rep... ...