Osteogenesis imperfecta and associated hearing loss in five kindreds.

We examined audiometric data of 30 medically confirmed cases of osteogenesis imperfecta, evaluating pure tone threshold and impedance data to determine the prevalence, type, and degree of hearing loss in five kindreds. Nineteen of the 30 individuals evaluated had normal hearing bilaterally, while 11 had hearing losses of various types and degrees. The results of pure tone testing, tympanometry, and acoustic reflex measurements suggest no clearly established pattern of hearing loss in this population. However, the presence of air-bone gaps and absent acoustic reflexes during the first and second decades support the findings of others, indicating that conductive hearing loss is most prevalent in younger individuals with osteogenesis imperfecta.