Nineteen cases of chondroectodermal dysplasia have heretofore been reported in the literature published in English. Analogous and forme fruste cases are omitted from this report. Constant features of this syndrome, consisting of (1) dyschondroplasia, (2) ectodermal dysplasia, and (3) polydactyly, were first described by McIntosh, in 1933, but they were not regarded as a nosologic disease syndrome until the addition of the second and third cases by Ellis and van Creveld, in 1940.1
This report adds to the literature the 20th and 21st cases and the 4th instance to be found in sibship (Fig. 1). These children have been under constant surveillance since birth at Walter Reed Army Hospital and are presently aged 1 and 6 years. Review of all cases thus far accumulated is made.
Report of Cases
Case 20.—Born of a 33-year-old seronegative mother as a single-footling breech after a fullterm uneventful gestation, this boy was found
DOUGLAS WF, SCHONHOLTZ GJ, GEPPERT LJ. Chondroectodermal Dysplasia (Ellis-van Creveld Syndrome): Report of Two Cases in Sibship and Review of Literature. AMA Am J Dis Child. 1959;97(4):473–478. doi:https://doi.org/10.1001/archpedi.1959.02070010475012
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: