Mild Form of Treacher Collins Syndrome Imitating Juvenile Otosclerosis. (16th August 2012)

• Record Type: Journal Article
• Authors: Zeleník, Karol; Komínek, Pavel
• Other Names: Czkwianianc E. Academic Editor.; De Vries E. Academic Editor.; Licht D. J. Academic Editor.; Shapiro N. L. Academic Editor.; Wong V. C. Academic Editor.
• Is Part Of: Case reports in pediatrics. Volume 2012(2012)
• Publication Date: 2012-08-16
• Subjects: Pediatrics -- Periodicals; Pediatrics; Pediatrics; Electronic journals; Periodicals; Case Reports; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 618.92
• DOI: 10.1155/2012/616797
• Languages: English
• ISSNs: 2090-6803

Abstract

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.