Mild form of Treacher Collins syndrome imitating juvenile otosclerosis

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00843989%3A_____%2F12%3A00102566" target="_blank" >RIV/00843989:_____/12:00102566 - isvavai.cz</a>
Alternative codes found
RIV/61988987:17110/12:A13016PY
Result on the web
<a href="http://dx.doi.org/10.1155/2012/616797" target="_blank" >http://dx.doi.org/10.1155/2012/616797</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1155/2012/616797" target="_blank" >10.1155/2012/616797</a>

Result language
angličtina
Original language name
Mild form of Treacher Collins syndrome imitating juvenile otosclerosis
Original language 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.
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FF - ENT (ie. ear, nose, throat), ophthalmology, dentistry
OECD FORD branch
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Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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