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Sep 25, 2023Keywords:
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Ellis-van Creveld syndrome in a Nigerian woman: A case study
Abstract
Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare, autosomal recessive disorder that was first described by Ellis and van Creveld in the mid-20th century. The syndrome is characterized by a tetrad of chondrodystrophy, post axial polydactyly, and hidrotic ectodermal dysplasia, mostly involving teeth and nails and a high frequency of congenital cardiac anomalies, most frequently a common atrium. There has been no documented case report of EVC syndrome from Nigeria in the literature. We, therefore, present a 30 year-old Nigerian woman who presented to our hospital with features consistent with this rare syndrome.
