Oral manifestations in Ellis-van Creveld syndrome: report of a case and review of the literature.

摘要

Ellis-van Creveld syndrome (EVC), initially called chon-droectodermal dysplasia, was first described in 1940 by the pediatricians Richard Ellis and Simon van Creveld. It is a rare recessive autosomal disorder characterized by chondrodysplasia, postaxial Polydactyly, ectodermal dysplasia, and congenital malformations, most frequently an atrioventricular septal defect, which is observed in 60% of patients. Even though these 4 features classically define the syndrome, a variable spectrum of clinical manifestations is often present.