Embryologie, Fehlbildungen und seltene Erkrankungen der
                    Cochlea

Athanasia Warnecke; Anja Giesemann

doi:10.1055/a-1349-3824

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CC BY-NC-ND 4.0 · Laryngorhinootologie 2021; 100(S 01): S1-S43
DOI: 10.1055/a-1349-3824

Referat

Embryologie, Fehlbildungen und seltene Erkrankungen der Cochlea

Article in several languages: deutsch | English

Athanasia Warnecke

¹Klinik für Hals-, Nasen- und Ohrenheilkunde, Medizinische Hochschule Hannover, Carl-Neuberg-Straße 1, 30625 Hannover

²Deutsche Forschungsgemeinschaft Exzellenzcluster”Hearing4all” – EXC 2177/1 - Project ID 390895286

,

Anja Giesemann

³Institut für Neuroradiologie, Medizinische Hochschule Hannover, Carl-Neuberg-Straße 1, 30625 Hannover

› Author Affiliations

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Zusammenfassung

Auch wenn die einzelnen Krankheitsbilder selten sind, stellen seltene Erkrankungen der Cochlea in ihrer Gänze eine doch gehäufte Entität dar, die zu Hörstörungen führt. Ein/Das Ziel des vorliegenden Referates war es, unter Berücksichtigung der Embryonalentwicklung der Hörschnecke und einer systematischen Zusammenfassung eine übersichtliche Darstellung der seltenen cochleären Erkrankungen zu ermöglichen. Auch wenn rapide biotechnologische und bioinformatische Fortschritte die Diagnose einer seltenen Erkrankung erleichtern, so kann oft nur im interdisziplinären Austausch der Verdacht einer seltenen Erkrankung erhoben werden. Trotz gleicher zugrunde liegender Mutationen kann der Phänotyp nicht nur bei den genetisch bedingten Hörstörungen sondern auch bei den syndromalen Erkrankungen stark variieren. Schließlich wird deutlich, dass der Phänotyp der einzelnen seltenen Erkrankungen nicht ausschließlich durch die klassische Genetik bestimmt werden kann.

Schlüsselwörter

seltene Erkrankungen - Cochlea - Embryologie des Innenohrs - cochleäre Malformationen

Publication History

Article published online:
30 April 2021

© 2021. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

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