CHONDROECTODERMAL DYSPLASIA (ELLISVAN CREVELD SYNDROME) WITH A COMPLEX CARDIAC MALFORMATION
1 Department of Pediatrics, State University of New York Upstate Medical Center at Syracuse, and Syracuse Memorial Hospital
A 4-month-old girl with chondroectodermal dysplasia (dwarfism, bimanual polydactyly and ectodermal dysplasia) (Ellisvan Creveld syndrome) and congenital heart disease, consisting of anamalous pulmonary venous return, single atrium and a persistent left superior vena cava, is described. A review of the literature concerning chondroectodermal dysplasia reveals an incidence of congenital heart disease in more than 50% of patients.
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