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January 1962

Chondroectodermal Dysplasia: Ellis-Van Creveld Syndrome

Author Affiliations

JERSEY CITY, N.J.; BALTIMORE; SAN FRANCISCO; Theodore Kushnick, M.D., Department of Pediatrics, Seton Hall College of Medicine and Dentistry, Jersey City 4, N.J.; Assistant Professor, Department of Pediatrics, Seton Hall College of Medicine, Jersey City; Attending Pediatrician, Jersey City Medical Center (Dr. Kushnick); at present, Teaching Fellow in Pediatric Outpatient Department, Johns Hopkins Hospital, Baltimore (Dr. Paya); at present, Pediatric Intern, Department of Pediatrics, University of California Medical Center, San Francisco (Dr. Mamunes).

Am J Dis Child. 1962;103(1):77-80. doi:10.1001/archpedi.1962.02080020081013

Since the first description of chondroectodermal dysplasia by Ellis and van Creveld in 1940,1 approximately 32 cases of this syndrome have been reported in the literature. Recent articles2-5 have reviewed the literature and discussed the salient features of the disease. Characteristically, there is ectodermal dysplasia, chondrodysplasia, and polydactyly, with or without associated congenital heart lesions and other defects.

This report is concerned with the 33d case to be described and the results of chromosome analysis done on this patient. To our knowledge there have been no previous reports of chromosome studies in a patient with this syndrome.

Report of Case  A 3½-year-old white female of Italian descent, was admitted to the Jersey City Medical Center, N.J., on March 8, 1961 because of fever and respiratory distress of 24 hours' duration.Past History.—This patient was the product of a normal full-term pregnancy and delivery; birth weight was 2,778