title: Pendred's syndrome with atypical features.
abstract: One of seven cases of Pendred's syndrome had mixed hearing loss, bilateral congenital stapes foot-plate fixation, surgically proven unilateral perilymph fistula and delayed fluctuating hearing loss in the unoperated ear. A unifying hypothesis is proposed to link these diversified findings.
mesh_terms: D000293:Adolescent; D002648:Child; D004429:Ear Ossicles / Q000002:abnormalities*; D005260:Female; D005402:Fistula / Q000175:diagnosis* / Q000235:genetics; D006044:Goiter, Nodular / Q000175:diagnosis* / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007761:Labyrinthine Fluids; D008297:Male; D010498:Perilymph; D013199:Stapes / Q000002:abnormalities*; D013577:Syndrome