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Journal of Bone and Joint Surgery, 1961;43:1230-1236.
© 1961 by The Journal of Bone and Joint Surgery, Inc

Chondro-Ectodermal Dysplasia (Ellis-van Creveld Syndrome)

Report of a Case and Review of the Literature

Narciso A. Ferrero M.D.1, Osvaldo O. Pozo M.D.1, and Emilio S. Morresi M.D.1

1 Department of Pediatrics "Casa Cuna", Buenos Aires University, School of Medicine and the Department of Radiology and Pediatrics, Ezeiza Policlinic, Buenos Aires

A case of Ellis-van Creveld syndrome (chondro-ectodermal dysplasia) is reported in a boy, nine years and nine months old. The main findings were polydactyly (both hands), ectodermal dysplasia (teeth and nails), and typical chondrodystrophial lesions. Congenital cardiac anomalies were absent. All studies, including the hemogram, blood chemistry, electrocardiogram, electroencephalogram, and psychometric and ophthalmoscopic examinations were normal. There was no consanguinity or genetic antecedents of the process in the parents. One brother and two half brothers were normal. From a review of the literature, this would appear to be the twenty-ninth case and the first reported from South America.


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