Ellis-van Creveld Syndrome. A case report in Ecuador

Abstract

Ellis-van Creveld syndrome is a rare autosomal recessive disorder. It is caused by a mutation in 4p16 chromosome. It is characterized by a classical tetrad: chondrodystrophy, postaxial polydactyly, ectodermal dysplasia, and congenital heart defect. The congenital heart defect is the main determinant of mortality. Ellis-van Creveld syndrome was described in 1940; it has been registered 150 case reports. There are few reports in South America. In Ecuador, it wasn’t found case reports. A 20 years old asymptomatic patient is presented, who goes to routine health care and is found to have a heart murmur.