Familial Otosclerosis Associated with Osteogenesis Imperfecta: A Case Report
- Author:
Ha Neul LEE
1
;
Hyun Jong JEON
;
Young Joon SEO
Author Information
- Publication Type:Case Report
- From:Journal of Audiology & Otology 2021;25(4):230-234
- CountryRepublic of Korea
- Language:English
- Abstract: Otosclerosis, a hereditary disorder characterized by disordered resorption and deposition of bone, results in progressive hearing loss. Osteogenesis imperfecta (OI) is a genetic disorder characterized by recurrent fractures, blue sclera, and varying degrees of hearing impairment; and is a known risk factor for otosclerosis. After adolescence, the risk of fracture decreases, reducing the need for follow-up in OI. However, otosclerosis is a progressive disorder. In this report, we discuss two cases of familial otosclerosis with different clinical features. We hypothesize that the difference in hearing level correlates with the difference in computed tomography findings. The mother, whose case was considered severe, was prescribed hearing aids, while the daughter, who had normal hearing level, was regularly followed up.
