Chondroectodermal Dysplasia (Ellis-van Creveld Syndrome) Case Report

Abstract

Summary A typical case of the Ellis‐van Creveld syndrome is reported, presenting all the classical features of the syndrome. Notably, there is widespread involvement of the ectoderm and mesoderm manifesting as dwarfism, deficiencies in hair and teeth, together with Polydactyly of the hands, and fusions and deformities in many bones. The recognition of this syndrome is important as it is commonly mistaken for other forms of dwarfism, particularly achondroplasia.