Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.

doi:10.1002/humu.24112

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Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.

Human mutation - 1 Dec 2020

Piceci-Sparascio Francesca, Palencia-Campos Adrian, Soto-Bielicka Patricia, D'Anzi Angela, Guida Valentina, Rosati Jessica, Caparros-Martin Jose A, Torrente Isabella, D'Asdia M Cecilia, Versacci Paolo, Briuglia Silvana, Lapunzina Pablo, Tartaglia Marco, Marino Bruno, Digilio M Cristina, Ruiz-Perez Victor L, De Luca Alessandro

Abstract excerpt

Clinical expression of Ellis-van Creveld syndrome (EvC) is variable and mild phenotypes have been described, including patients with mostly cardiac and limb involvement. Whether these cases are part of the EvC phenotypic spectrum or separate conditions is disputed. Herein, we describe a family with vertical transmission of atrioventricular canal defect (AVCD), common atrium, and postaxial polydactyly. Targeted...

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PMID: 32906221
DOI: 10.1002/humu.24112

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