Korean Journal of Audiology (대한청각학회지)

The Korean Audiology Society (대한청각학회)
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Familial Otosclerosis Associated with Osteogenesis Imperfecta: A Case Report

  • Lee, Ha Neul (Department of Otorhinolaryngology-Head and Neck Surgery, Research Institute of Hearing Enhancement, Yonsei University Wonju College of Medicine) ;
  • Jeon, Hyun Jong (Department of Otorhinolaryngology-Head and Neck Surgery, Research Institute of Hearing Enhancement, Yonsei University Wonju College of Medicine) ;
  • Seo, Young Joon (Department of Otorhinolaryngology-Head and Neck Surgery, Research Institute of Hearing Enhancement, Yonsei University Wonju College of Medicine)
  • Received : 2021.02.23
  • Accepted : 2021.04.08
  • Published : 2021.10.20
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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.

Keywords

Acknowledgement

This work was supported by the National Research Foundation of Korea (NRF) grant funded by the Korea government (MSIT) (No. NRF-2020R1A2C1009789) and by National Information Society Agency (NIA) funded by the Ministry of Science, ICT.

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