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Klippel-Feil syndrome is characterized by a short-neck and a low occipital hairline due to such deformaties of the cervical spine as aplasia, dysplasia and fusions of the cervical and thoracic vertebrae. Approximately 1/3 of cases have sensorineural deafness, although occasional unilateral or bilateral conductive hearing loss due to middle ear malformations have been described. We have now treated two cases with unilateral middle ear malformations in patients with known Klippel-Feil syndrome. In the first case a completely malformed stapes was found as well as an atypical course of the facial nerve, which was found to be exactly over an absent oval window. In the second case aplasia of the stapes was seen and the oval and round windows were absent. No epitympanum was identifiable and a compact mastoid was found. In addition to audiometry, high-resolution CT was indispensable in diagnosis. However, surgical procedures in cases with unilateral middle ear deformations should be performed only on explicit request of the patient and not before the age of 16.
Klippel-Feil syndrome is characterized by a short-neck and a low occipital hairline due to such deformaties of the cervical spine as aplasia, dysplasia and fusions of the cervical and thoracic vertebrae. Approximately 1/3 of cases have sensorineural deafness, although occasional unilateral or bilateral conductive hearing loss due to middle ear malformations have been described. We have now treated two cases with unilateral middle ear malformations in patients with known Klippel-Feil syndrome. In the first case a completely malformed stapes was found as well as an atypical course of the facial nerve, which was found to be exactly over an absent oval window. In the second case aplasia of the stapes was seen and the oval and round windows were absent. No epitympanum was identifiable and a compact mastoid was found. In addition to audiometry, high-resolution CT was indispensable in diagnosis. However, surgical procedures in cases with unilateral middle ear deformations should be performed only on explicit request of the patient and not before the age of 16.
РЕЗЮМЕ. У роботі наведено огляд наукових джерел, які стосуються вроджених вад розвитку зовнішнього вуха, що включають в себе зміну розміру, положення, структури вушної раковини тощо. Мета – дослідити механізм формування вад розвитку зовнішнього вуха, їх класифікацію і методи діагностики та лікування. Матеріал і методи. У роботі використані бібліосистематичний та аналітичний методи пошуку та аналізу наукової інформації, отриманої з доступних наукових публікацій. Результати. Вроджені вади розвитку можуть бути складними і різноманітними, їх уніфікації приділена значна увага. У статті описані типові вади горбків, комбіновані вади, їх класифікація за тяжкістю і локалізацією. Висвітлено широкий спектр клінічних та інструментальних методів дослідження, які використовують для діагностики вад слуху, а також методи лікування вад вуха. Висновки. Вади розвитку органа слуху – це складна патологія, що потребує ретельної уваги та високої кваліфікації лікаря. Лікування пацієнтів з цією патологією є складним, багатоетапним та дороговартісним. Проведення імплантаційного протезування може забезпечити пацієнтам повноцінний слух.
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