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Familial Otosclerosis Associated with Osteogenesis Imperfecta: A Case Report
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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Audiological Society and Korean Otological Society
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8524114/ https://www.ncbi.nlm.nih.gov/pubmed/34167184 http://dx.doi.org/10.7874/jao.2021.00122 |
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author | Lee, Ha Neul Jeon, Hyun Jong Seo, Young Joon |
author_facet | Lee, Ha Neul Jeon, Hyun Jong Seo, Young Joon |
author_sort | Lee, Ha Neul |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-8524114 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | The Korean Audiological Society and Korean Otological Society |
record_format | MEDLINE/PubMed |
spelling | pubmed-85241142021-10-29 Familial Otosclerosis Associated with Osteogenesis Imperfecta: A Case Report Lee, Ha Neul Jeon, Hyun Jong Seo, Young Joon J Audiol Otol Case Report 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. The Korean Audiological Society and Korean Otological Society 2021-10 2021-06-25 /pmc/articles/PMC8524114/ /pubmed/34167184 http://dx.doi.org/10.7874/jao.2021.00122 Text en Copyright © 2021 The Korean Audiological Society and Korean Otological Society https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) ) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Lee, Ha Neul Jeon, Hyun Jong Seo, Young Joon Familial Otosclerosis Associated with Osteogenesis Imperfecta: A Case Report |
title | Familial Otosclerosis Associated with Osteogenesis Imperfecta: A Case Report |
title_full | Familial Otosclerosis Associated with Osteogenesis Imperfecta: A Case Report |
title_fullStr | Familial Otosclerosis Associated with Osteogenesis Imperfecta: A Case Report |
title_full_unstemmed | Familial Otosclerosis Associated with Osteogenesis Imperfecta: A Case Report |
title_short | Familial Otosclerosis Associated with Osteogenesis Imperfecta: A Case Report |
title_sort | familial otosclerosis associated with osteogenesis imperfecta: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8524114/ https://www.ncbi.nlm.nih.gov/pubmed/34167184 http://dx.doi.org/10.7874/jao.2021.00122 |
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