Abstract

GONZALES PORTILLO, Sara Nila et al. Atrioventricular canal defect, single atrium and tricuspid atresia as part of a case of Ellis-Van Creveld syndrome. Arch. argent. pediatr. [online]. 2013, vol.111, n.3, pp.e58-e61. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2013.e58.

Ellis-Van Creveld Syndrome or chondrectodermal dysplasia is produced by an autosomal recessive inheritance secondary to mutation in the short arm of chromosome 4. The syndrome affects multiple organs. It is described as a clinical tetrad that involves chondrodysplasia, ectodermal dysplasia, polydactyly and congenital heart defects. It is only known from reports and case series. We present a three months old male, without relevant family history, who presented chondrodysplasia, upper lip merged to palate, bilateral sinpolydactyly in the hands, developmental dysplasia of the hip, narrow chest with short ribs, and heart defects. This case is the first report of EVC in Peruvian literature.

Keywords : Ellis-Van Creveld Syndrome; Chondrodysplasia; Single atrium; Postaxial polydactyly.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )