Ellis-van Creveld syndrome. An inbred kindred with five cases.
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 our cases. Cephalometric radiographs from one patient showed an enlargement of the mentum-groove-labial distance. The diagnosis of two individuals was performed by clinical and radiological examinations. An autosomal recessive mode of inheritance is strongly suggested by their pedigree.
D000886:Anthropometry; D002508:Cephalometry; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D003937:Diagnosis, Differential; D004613:Ellis-Van Creveld Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D010375:Pedigree; D011859:Radiography; D014071:Tooth Abnormalities / Q000000981:diagnostic imaging