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April 1964

Ellis-van Creveld Syndrome: Report of One Case Associated With Abiotrophy of Elastic Tissue in the Cardiovascular System

Author Affiliations


From the Department of Pathology, Hebrew University-Hadassah Medical School, and the Department of Medicine "B," the Rothschild Hadassah University Hospital.

Arch Intern Med. 1964;113(4):606-611. doi:10.1001/archinte.1964.00280100114017

In 1940 Ellis and van Creveld 1 described three cases of a peculiar disorder, the cardinal symptoms of which were chondrodysplasia, polydactylia of the hands, dysplasia of the nails, teeth, and hair, and congenital heart disease. For obvious reasons, they named the syndrome "chondroectodermal dysplasia." In 1960, Dayer2 was able to collect from the literature 33 cases of what by then had come to be recognized as the Ellis-van Creveld syndrome, a congenital disorder with an autosomal recessive mode of inheritance,3 affecting a wide variety of ethnic groups. In his review, Dayer did not include the case of Darling, Rothney, and Craig,4 which, in our opinion, could reasonably be considered to have been one of chondroectodermal dysplasia. Dayer himself described three examples of the syndrome, and the subsequent case reports of Husson and Parkman,5 Nabrady,6 Ellis and Andrew (two cases),7 Tubbs et al,8

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