Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome.
A father and son are described with an autosomal dominant branchial cleft syndrome resembling both the branchio-oto-renal and the branchio-oculo-facial syndrome. Both syndromes may represent variant expressions of the same autosomal dominant gene.
Legius
E
E
Department of Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.
Fryns
J P
JP
Van den Berghe
H
H
D000328:Adult; D001935:Branchioma / Q000235:genetics*; D002675:Child, Preschool; D002972:Cleft Palate / Q000235:genetics; D003231:Conjunctivitis / Q000235:genetics; D004431:Ear, External / Q000002:abnormalities; D005799:Genes, Dominant; D006258:Head and Neck Neoplasms / Q000235:genetics*; D006311:Hearing Disorders / Q000235:genetics; D006801:Humans; D007360:Intelligence; D007767:Lacrimal Duct Obstruction / Q000235:genetics; D008297:Male; D008850:Microphthalmos / Q000235:genetics; D013577:Syndrome