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Revista Uruguaya de Cardiología

Print version ISSN 0797-0048On-line version ISSN 1688-0420


VALDIVIESO, Carlos Guamán et al. Ellis-van Creveld Syndrome. A case report in Ecuador. Rev.Urug.Cardiol. [online]. 2019, vol.34, n.1, pp.201-210. ISSN 0797-0048.

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.

Keywords : Ellis-van Creveld Syndrome; Heart Defects; Congenital; Ectodermal Dysplasia; Polydactyly.

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