Osteogenesis Imperfecta: Phenotypic and Intraoperative Findings Observed in Patients Treated Surgically at the World Hearing Centre.

OBJECTIVES: Osteogenesis imperfecta (OI) is a systemic connective tissue disease that affects many systems and organs. Features of the disease are bone deformities, blue sclerae, and changes in the teeth, all of which may be accompanied by hearing loss. Bone fragility also affects structures of the ear, with half the patients developing changes in the auditory ossicles, which manifest as hearing loss. The most typical malformation affects the stapes, although the site of malformation within the middle ear varies. This study aims to characterize patients with OI who underwent surgery due to hearing loss and to find factors that affect the hearing results.

MATERIALS AND METHODS: This study presents an analysis of phenotypic and intraoperative changes among 20 patients with OI, treated surgically for hearing loss.

RESULTS: Hearing loss typically affects type I patients with OI. The most common changes concern stapes footplate, arms, and tympanic cavity lining. During reoperations, osseous regrowth was typically detected.

CONCLUSION: The greater the changes induced systemically by OI, the greater the risk of significant malformations in the middle ear. Patients with OI are at an increased risk of needing revision surgery and of suffering intraoperative complications such as bleeding, which hinders safe completion of the procedure.