title: Ectrodactyly (split-hand/split-foot) and ectodermal dysplasia with normal lip and palate in a four-generation kindred.
abstract: Five members of a four-generation Mauritian family with ectrodactyly (split-hand/split-foot deformity) and ectodermal dysplasia but without clefting of the lip or palate have been investigated. The ectrodactyly ranged from virtual normality to severe tetramelic deficiencies. The ectodermal dysplasia manifested as hypotrichosis and abnormal dentition. Distinction is drawn between this autosomal dominant condition and the classical EEC syndrome; independent syndromic status is proposed.
authors.affiliation: Department of Human Genetics, Medical School, University of Cape Town, South Africa.
authors.forename: C E
authors.initials: CE
authors.lastname: Wallis
mesh_terms: D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000000981:diagnostic imaging / Q000235:genetics*; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D011859:Radiography