Ellis-Van Creveld syndrome: Report of two cases

Abstract

Ellis–van Creveld (EVC) syndrome is an ectodermal and chondral dysplasia as three embryonic layers are involved. It is a form of achondroplastic dwarfi sm resulting from an autosomal recessive disorder. It is most prevalent in the Amish population occurring in 1/5,000 live births and the birth prevalence in non-Amish population are estimated to be 7/1,000,000. Multiple malformations of the ectoderm and mesoderm, including short ribs, polydactyly, growth retardation and congenital cardiac anomalies are noted. This rare condition is inherited due to gene mutations of the EVC1 and EVC2, located on chromosome 4p16 in head to head confi guration. The presence of multiple orodental fi ndings such as conical teeth, hypodontia, malocclusion and hypoplasia of the enamel makes this syndrome important for a dentist. This article attempts to highlight on two female cases of EVC syndrome who reported to our institution where rare dental fi ndings and skeletal features were diagnosed along with a review of the literature.