Mild form of Treacher Collins syndrome imitating juvenile otosclerosis

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/61988987:17110/12:A13016PY

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Mild form of Treacher Collins syndrome imitating juvenile otosclerosis

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

Mild form of Treacher Collins syndrome imitating juvenile otosclerosis

Popis výsledku anglicky

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.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FF - ORL, oftalmologie, stomatologie

OECD FORD obor

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Projekt

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Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2012

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Case reports in pediatrics [online]

ISSN

2090-6811

e-ISSN

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Svazek periodika

2012

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

3

Strana od-do

"Article ID 616797"

Kód UT WoS článku

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EID výsledku v databázi Scopus

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