Mild Form of Treacher Collins Syndrome Imitating Juvenile Otosclerosis

Mild Form of Treacher Collins Syndrome Imitating Juvenile Otosclerosis

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 conductiv...

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Main Authors: Karol Zeleník, Pavel Komínek
Format: Article
Language:English
Published: Hindawi Limited 2012-01-01
Series:Case Reports in Pediatrics
Online Access:http://dx.doi.org/10.1155/2012/616797
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spelling doaj-f771ababb6914715a9196d7096531ac72020-11-24T22:39:20ZengHindawi LimitedCase Reports in Pediatrics2090-68032090-68112012-01-01201210.1155/2012/616797616797Mild Form of Treacher Collins Syndrome Imitating Juvenile OtosclerosisKarol Zeleník0Pavel Komínek1Department of Otorhinolaryngology, University Hospital Ostrava, 708 52 Ostrava, Czech RepublicDepartment of Otorhinolaryngology, University Hospital Ostrava, 708 52 Ostrava, Czech RepublicTreacher 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.http://dx.doi.org/10.1155/2012/616797
collection DOAJ
language English
format Article
sources DOAJ
author Karol Zeleník
Pavel Komínek
spellingShingle Karol Zeleník
Pavel Komínek
Mild Form of Treacher Collins Syndrome Imitating Juvenile Otosclerosis
Case Reports in Pediatrics
author_facet Karol Zeleník
Pavel Komínek
author_sort Karol Zeleník
title Mild Form of Treacher Collins Syndrome Imitating Juvenile Otosclerosis
title_short Mild Form of Treacher Collins Syndrome Imitating Juvenile Otosclerosis
title_full Mild Form of Treacher Collins Syndrome Imitating Juvenile Otosclerosis
title_fullStr Mild Form of Treacher Collins Syndrome Imitating Juvenile Otosclerosis
title_full_unstemmed Mild Form of Treacher Collins Syndrome Imitating Juvenile Otosclerosis
title_sort mild form of treacher collins syndrome imitating juvenile otosclerosis
publisher Hindawi Limited
series Case Reports in Pediatrics
issn 2090-6803
2090-6811
publishDate 2012-01-01
description 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.
url http://dx.doi.org/10.1155/2012/616797
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AT pavelkominek mildformoftreachercollinssyndromeimitatingjuvenileotosclerosis
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