Familial mixed deafness with branchial arch defects (earpits-deafness syndrome).
The earpits-deafness syndrome is a rare autosomal dominant condition. This report documents 4 families and describes the characteristic radiological features of both the inner and the middle-ear lesions. Prospects for surgical intervention are discussed.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D001935:Branchioma / Q000235:genetics*; D004423:Ear / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000601:surgery; D005260:Female; D006258:Head and Neck Neoplasms / Q000235:genetics*; D034381:Hearing Loss / Q000235:genetics*; D006312:Hearing Loss, Bilateral / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D011859:Radiography; D013577:Syndrome