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.

Exotropia in a case of Ellis Van Creveld syndrome: A rare case report

“…[ 1 ] The prevalence rate is as low as 0.7/100,000 live births with the maximum cases reported in the Amish population in the Lancaster country, PA, USA. [ 2 ] In India, the disorder is itself rare and only a few cases have been documented with strabismus. [ 2 3 ] The mutation of genes EVC and EVC2/LIMBIN lying in juxtaposition on human chromosome 4p16 leads to the disorders of the primary cilium and results in a syndromic disorder called ciliopathies.…”

“…[ 2 ] In India, the disorder is itself rare and only a few cases have been documented with strabismus. [ 2 3 ] The mutation of genes EVC and EVC2/LIMBIN lying in juxtaposition on human chromosome 4p16 leads to the disorders of the primary cilium and results in a syndromic disorder called ciliopathies. [ 4 ] This case describes a case of EVC with classic manifestations of ectodermal dysplasia (thin and sparse hair, eczematous skin, delayed dentition, multiple carious teeth, hypoplastic enamel); chondrodysplasia (short stature); and congenital heart disease (large atrial septal defect with mild valvular pulmonary stenosis).…”