Defecto del canal auriculoventricular, aurícula única y atresia tricuspídea como parte de un caso de síndrome de Ellis-Van Creveld

摘要: 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 described as a clinical tetrad that involves chondrodysplasia, ectodermal dysplasia, polydactyly and congenital heart defects. only known from reports case series. We present three months old male, without relevant family history, who presented upper lip merged palate, bilateral sinpolydactyly hands, developmental hip, narrow chest with ribs, This first report EVC Peruvian literature.