Inner ear anomalies are frequent but nonobligatory features of the branchio-oto-renal syndrome.

OBJECTIVE To summarize the syndromic features and evaluate the presence of inner ear anomalies in 35 patients with branchio-oto-renal (BOR) syndrome from 6 families. DESIGN Retrospective evaluation of magnetic resonance imaging of the temporal bones and clinical features in patients with BOR syndrome. SETTING Tertiary referral center. PATIENTS The study population comprised 35 clinically affected patients with BOR syndrome from 6 families. Most of these families were followed for over 25 years. MAIN OUTCOME MEASURES Twenty-four patients underwent high-resolution, heavily T2-weighted 3-dimensional magnetic resonance imaging of the temporal bones for evaluation of inner ear anomalies. Special attention was paid to the endolymphatic duct and sac. RESULTS A total of 7 enlarged endolymphatic ducts and sacs (3 bilaterally and 4 unilaterally) and 5 enlarged endolymphatic ducts only (2 bilaterally and 3 unilaterally) were observed. Eight hypoplastic cochleas and 6 hypoplastic labyrinths were seen bilaterally. Seven family members had normal inner ears. CONCLUSION These findings suggest that inner ear anomalies are frequent but nonobligatory features of BOR syndrome.