Ellis van creveld syndrome with synpolydactyly, an antenatal diagnosis with postnatal correlation.

Abstract

Ellis Van Creveld syndrome (EVC), also known as chondroectodermal dysplasia, presents at birth with short limbs accompanied by postaxial polydactyly, nail dysplasia, and dental anomalies. Other manifestations of EVC include atrial septum defects and other congenital heart diseases. We report a case of the EVC syndrome with postaxial polydactyly (Synpolydactyly with seven fingers on the right side and hexadactyly on the left side) and a partial atrioventricular canal defect diagnosed antenatally. This variation of EVS has not been reported in English literature till date.

• Authors: Nischal G Kundaragi, Kishor Taori, Ritesh Kumawat, Jawahar Rathod, Atul E Sawant
• Journal: Journal of clinical imaging science (J Clin Imaging Sci) Vol. 1 Pg. 59 ( 2011) ISSN: 2156-5597 [Electronic] United States
• PMID: 22267994 (Publication Type: Case Reports)