Progressive stapedial fixation in Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome is a genetic fetal overgrowth disturbance characterized by organomegaly, abdominal wall defects, postnatal hypoglycemia, and increased frequency of embryonic and postnatal tumors. Hearing loss in connection with this syndrome is rare. We describe a patient with Beckwith-Wiedemann syndrome having a progressive conductive hearing loss caused by a stapedial footplate fixation occurring during preschool age. We studied progression of the hearing impairment audiometrically from the patient's fourth year of life until age 19. In the right ear, it progressed from a mean pure-tone hearing level of 10 dB to 70 dB, with a perceptive component of 30 dB. The hearing level of the left ear remained at 25 dB. An exploratory tympanotomy disclosed stapedial fixation, and a partial stapedectomy improved the hearing level in the right ear to 30 to 35 dB. In patients with Beckwith-Wiedemann syndrome, a progressive conductive hearing loss, caused by stapedial footplate fixation, may develop after birth. Clinically, the fixation is identical to otosclerosis, but the typical family history of otosclerosis is lacking.