Abstract

The Ellis-van Creveld (EvC) syndrome (EvC) is a rare chondral and ectodermal dysplasia inherited autosomal recessively. The EvC syndrome is characterized by chondrodysplasia and ectodermal dysplasia, polydactyly, and congenital cardiac defects. It is reported that common atrium and endocardial cushion defects are the most common congenital cardiac defects in patients with the EvC syndrome. Here, a four-year-old girl with the diagnostic features of EvC syndrome and a common atrium with persistent left superior vena cava demonstrated by echocardiographic and angiocardiographic investigations is described because of the rarity of this syndrome

Keywords: Ellis-van Creveld syndrome, Heart atrium, Congenital heart defect, Superior vena cava

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How to cite

1.
Alp H, Şap F, Altın H, Karataş Z, Baysal T, Karaaslan S. Ellis-van Creveld Syndrome (Chondroectodermal Dysplasia) A Case Report: Association of Common Atrium and Persistent Left Superior Vena Cava. Turk J Pediatr Dis [Internet]. 2013 Aug. 1 [cited 2025 May 25];7(2):89-93. Available from: https://turkjpediatrdis.org/article/view/236