Chondroectodermal Dysplasia (Ellis-van Creveld Syndrome)

Abstract

Ellis and van Creveld¹ in 1940 described two patients who presented ectodermal dysplasia affecting the nails, teeth, and hair; polydactyly; chondrodysplasia, and congenital heart disease. Their report included a third patient, previously described by McIntosh² in 1933, who showed all of the congenital anomalies of the other two cases except congenital heart disease. Since that time 24 additional cases have been reported in 16 papers.^3-18 Three other cases reported as examples of this syndrome by Keizer and Schilder,¹⁹ Debre et al.,²⁰ and Gallagher et al.²¹ are lacking in one or more of the minimal requirements and therefore have not been included in this review. It is the purpose of this paper, in addition to presenting another case, to discuss briefly the diagnosis, the variability of the manifestations, and the hereditary factors in this syndrome. The increase in the number of cases reported in the