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Case Reports in Pediatrics
Volume 2012, Article ID 616797, 3 pages
http://dx.doi.org/10.1155/2012/616797
Case Report

Mild Form of Treacher Collins Syndrome Imitating Juvenile Otosclerosis

1Department of Otorhinolaryngology, University Hospital Ostrava, 708 52 Ostrava, Czech Republic
2Faculty of Medicine, University of Ostrava, 703 00 Ostrava, Czech Republic

Received 7 June 2012; Accepted 24 July 2012

Academic Editors: E. Czkwianianc, E. De Vries, D. J. Licht, N. L. Shapiro, and V. C. Wong

Copyright © 2012 Karol Zeleník and Pavel Komínek. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Treacher Collins syndrome (TCS) is an inherited developmental disorder. More than 40% of individuals with TCS have conductive hearing loss attributed to external and middle ear anomalies. Mild cases of TCS often pass undiagnosed at birth or early childhood. The disease may be manifested as conductive hearing loss in teenagers and may resemble juvenile otosclerosis. Patients could suffer from slight facial variabilities including retrognathia (as in our case) and others, which point out to a possible middle ear anomaly. Surgical corrections of middle ear anomalies including TCS generally lead to poorer outcomes comparing with juvenile otosclerosis, which should be discussed with parents during preoperative counselling.