The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the Branchio-Oto-Renal syndrome. A family study

Objective: A new large family with the BOR syndrome is reported with specia l reference to the presence of a widened Vestibular aqueduct and a progress ive sensorineural component in the mixed hearing loss. A review of the BOR literature of 184 patients is given. Setting: University Hospitals. Results : A BOR family with 17 affected members was studied. Fourteen of those 17 w ere still alive and 12 of those cooperated in this clinical study. Detailed radiological studies showed in three out of 12 affected family members a w idened vestibular aqueduct and progressive sensorineural hearing loss. This raises the question whether there is a true correlation or whether those a re coincidental. Conclusions: In our family with the Branchio-Oto-Renal syn drome, a widened vestibular aqueduct and progressive hearing loss is found in a few affected family members. Imaging of the temporal bones and long-te rm audiometric follow-up could help to reveal whether the widened vestibula r aqueduct is the cause for the progressive hearing loss. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.