Otology Japan
Online ISSN : 1884-1457
Print ISSN : 0917-2025
ISSN-L : 0917-2025
Original Article
Case reports of Treacher Collins Syndrome in siblings
Junko AbeKensaku HasegawaAigo YamasakiHiroaki YazamaYasuomi KunimotoHiroya Kitano
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JOURNAL FREE ACCESS

2012 Volume 22 Issue 5 Pages 827-832

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Abstract
Treacher Collins Syndrome, alternatively called mandibulofacial dysostosis, is an autosomal dominant anomaly of the craniofacial development that occurs with an incidence of 1 in 50,000 live births. Approximately 60% of cases possibly arise as a result of mutations. After assessing HRCT images using Jahrsdoerfer's grading scale, we performed tympanoplasty for two siblings with Treacher Collins Syndrome. The use of Jahrsdoerfer's grading scale provides us a great prediction of postoperative hearing prognosis. However, mobility of stapes are not evaluated by the grading system, so that we have to prepare for stapes surgery.
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© 2012 Japan Otological Society
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