Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome

E Legius; J P Fryns; H Van den Berghe

doi:10.1111/j.1399-0004.1990.tb03517.x

Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome

Clin Genet. 1990 May;37(5):347-50. doi: 10.1111/j.1399-0004.1990.tb03517.x.

Authors

E Legius¹, J P Fryns, H Van den Berghe

Affiliation

¹ Department of Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.

PMID: 2354548
DOI: 10.1111/j.1399-0004.1990.tb03517.x

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.

Publication types

Case Reports

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