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.