ELLIS-VAN CREVELD SYNDROME - INBRED KINDRED WITH 5 CASES

  • 1 January 1977
    • journal article
    • research article
    • Vol. 10  (3) , 193-198
Abstract
Five additional cases of a kindred with inbred Ellis-van Creveld syndrome are reported. Ectodermal dysplasia polydactyly, chondroectodermal dysplasia and possibly congenital heart diseases were present in all cases. Cephalometric radiographs from 1 patient showed an enlargement of the mentum-groove-labial distance. The diagnosis of 2 individuals was performed by clinical and radiological examinations. An autosomal recessive mode of inheritance is strongly suggested by their pedigree.