Evidence of progression and fluctuation of hearing impairment in branchio-oto-renal syndrome.

We retrospectively analysed long-term serial audiometry data from patients with branchio-oto-renal (BOR) syndrome to show the features of progression and fluctuation in hearing impairment and relate the findings to age and magnetic resonance imaging (MRI) findings in the petrosal bones. Thirty-two clinically affected BOR patients from six Dutch families (A-F) were included. Audiograms were available in 24 cases, covering followup intervals of between 3 and 30 years, and suitable for individual statistical analysis in 16 cases: 14 cases also had MRI findings.