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Case Studies | Medicine Science | India | Volume 8 Issue 7, July 2019
Late Survival in Ellis Van-Creveld Syndrome in an Indian - A Case Report
Dr. P. M. Karthik | Dr. N. Jeeva [3] | Dr. Sairam JB [2]
Abstract: Ellis Van Creveld (EVC) syndrome also called as chondroectodermaldysplasia [1] is a rare genetic disorder [1] characterised by Chondrodystrophy, Polydactyly, Ectodermal dysplasia and cardiac anomalies. It is an important phenotype for congenital heart disease as it is present in 50 % of patients with this syndrome and half of them have a common atrium [2, 5]. These patients rarely survive till adulthood. Here we report a case of EVC syndrome presenting in middle age. A 40 year old male presented with history of progressive breathlessness of five years duration and on examination he was found to be in cardiac failure. He had Short stature, Central cyanosis, Clubbing, Genu valgum, Polydactyly of both hands and feet, Clinodactyly and Common atrium as proved by echocardiogram.
Keywords: Chondro ectodermal dysplasia, Polydactyly, EVC, Common atrium
Edition: Volume 8 Issue 7, July 2019,
Pages: 721 - 722