Die Existenz eines eigenständigen Krankheitsbildes Branchiootische Syndrom (BOS) ist umstritten zumal das Branchio-Oto-Renale Syndrom (BOR) im Typ1 jeweils von Mutationen des gleichen Gens ausgelöst werden. Das BOS1 ist somit ein BOR1 ohne renaler Beteiligung. Darüber hinaus scheint nach unseren bisherigen Kenntnissen allerdings keine Überlappung mehr zu bestehen. Drei Typen sind bisher bekannt. Für den Typ 2 ist das verantwortliche Gen noch nicht gefunden.
Schwerhörigkeit | |
Die Schwerhörigkeit beim Branchiootischen Syndrom ist gemischt (Innenohr- und Schalleitungsschwerhörigkeit). Sie beruht auf Fehlbildungen des äußeren Gehörganges (Atresie bis Stenose) und unzureichender Ausbildung von Cochlea und Labyrinth. |
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Orphanet article Orphanet ID 52429 |