Abstract
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.
MeSH terms
-
Adult
-
Branchioma / genetics*
-
Child, Preschool
-
Cleft Palate / genetics
-
Conjunctivitis / genetics
-
Ear, External / abnormalities
-
Genes, Dominant
-
Head and Neck Neoplasms / genetics*
-
Hearing Disorders / genetics
-
Humans
-
Intelligence
-
Lacrimal Duct Obstruction / genetics
-
Male
-
Microphthalmos / genetics
-
Syndrome