SINCE THE first full description of the syndrome by Ellis and van Creveld1 in 1940, chondroectodermal dysplasia has been reported in at least 103 persons.2-6 While the syndrome has been noted most frequently in whites,2-6 only one instance has been reported in a Negro who also had congenital heart disease.7 McKusick et al3 referred to three Negro families with Ellis-van Creveld syndrome, but did not mention whether there was associated heart disease. The purpose of this paper is to report two new instances of the syndrome, one of these being the second example of Ellis-van Creveld syndrome associated with heart disease in a Negro, and to review the types of cardiac malformations associated with chondroectodermal dysplasia.
Report of Cases
Case 1.—This Negro boy was born to a 20-year-old gravida I woman after a full-term uncomplicated pregnancy. His birth weight was 3,300 gm (7 lb 4
Lynch JI, Perry LW, Takakuwa T, Scott LP. Congenital Heart Disease and Chondroectodermal Dysplasia: Report of Two Cases, One in a Negro. Am J Dis Child. 1968;115(1):80–87. doi:10.1001/archpedi.1968.02100010082016
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