title: Autosomal dominant atresia of the auditory canal and conductive deafness.
abstract: We report autosomal dominant atresia and/or stenosis of the external auditory canal with or without conductive deafness. In the family described here the anomaly had occurred in 12 individuals in five generations. Penetrance was very high, expressivity quite variable. The clinical, audiometric, radiographic, and operative findings in three patients (grandfather, father, and son) are presented. This condition has been reported only once previously.
mesh_terms: D000328:Adult; D002648:Child; D004424:Ear Canal / Q000002:abnormalities*; D005799:Genes, Dominant; D034381:Hearing Loss / Q000235:genetics*; D006314:Hearing Loss, Conductive / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype