骨形成不全症による難聴と考えられた母娘例

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  • Hearing Disorders in Osteogenesis Imperfecta (Case of a Mother and Daughter)
  • 臨床 骨形成不全症による難聴と考えられた母娘例
  • リンショウ ホネ ケイセイ フゼンショウ ニ ヨル ナンチョウ ト カンガエラレタ オヤコレイ

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Bilateral hearing loss in a 44-year-old mother and her 17-year-old daughter was thought to be related to osteogenesis imperfecta (OI), although the other typical clinical signs and symptoms were scarce. Both showed a normal stature and no bone deformities. The mother has been followed up for 7 years as a case of sensorineural hearing loss, with one episode of acute deterioration in the lower frequencies about one year ago. She gave a history of suffering from bone fractures four times. The daughter showed bilateral mixed hearing loss and a blue sclera, but no history of bone fractures. CT images of the daughter showed extensive decalcified foci, suggestive of otosclerotic changes, in the otic capsule, however, no such changes were confirmed in the mother’s CT.<br>In diagnosing the cause of sensorineural hearing loss, careful checkup of the family and past history and physical signs of OI, such as bone deformities and blue sclera, and CT should be considered. We should be aware that sensorineural hearing disorders in cases of OI may occur in the absence of the characteristic physical features.

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