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Late survival in Ellis-van Creveld syndrome - a case report
Trinath Mishra1, Satya N Routray, Biswajit Das
1Department of Cardiology, SCB Medical College, Cuttack, Odisha, India. drtkmishra@yahoo.com
Indian Heart Journal
|August 30, 2012
Abstract:
Ellis-van Creveld syndrome (EVC) is an autosomal recessive disorder characterized by chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac anomalies. Acromelic shortening of upper and lower limbs, genu valgum, multiple frenula, deformed teeth, short ribs and narrow thorax and congenital heart diseases complete the picture. The patients with the syndrome rarely survive into adulthood. Here, we report a lady with EVC presenting for the first time in middle age.
