title: [Atrioventricular canal defect, single atrium and tricuspid atresia as part of a case of Ellis-Van Creveld syndrome].
abstract: 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.
authors.affiliation: Servicio de Pediatría B, Hospital Regional del Cusco, Cusco, Perú.
authors.forename: Sara Nila
authors.initials: SN
authors.lastname: Gonzales Portillo
authors.forename: Rosa
authors.initials: R
authors.lastname: Conde Sumire
authors.forename: Fernando
authors.initials: F
authors.lastname: Gamio Vega Centeno
authors.forename: Gustavo
authors.initials: G
authors.lastname: Hernández-Córdova
authors.forename: Franco
authors.initials: F
authors.lastname: Romaní Romaní
mesh_terms: D000015:Abnormalities, Multiple; D004613:Ellis-Van Creveld Syndrome / Q000150:complications*; D004694:Endocardial Cushion Defects / Q000150:complications*; D006325:Heart Atria / Q000002:abnormalities*; D006343:Heart Septal Defects; D006801:Humans; D007223:Infant; D008297:Male; D018785:Tricuspid Atresia / Q000150:complications*