title: [Familial mixed hearing loss associated with X chromosome and stapedial gusher].
abstract: Perilymphatic and/or CSF loss through the oval window during stapedectomy is called a gusher. This rare disorder is associated with X-linked progressive mixed hearing loss. It is related with mutations in the POU3F4 gene at locus DFN3 on Xq21. Our study of the cases seen in our department yielded information and clinical and radiological findings that could be useful for the clinical management, early diagnosis, and prevention of erroneous therapeutic indications.
authors.affiliation: Servicio de ORL, Hospital General Universitario, Murcia.
authors.forename: A
authors.initials: A
authors.lastname: Almodóvar Iñesta
authors.forename: E
authors.initials: E
authors.lastname: Viviente Rodríguez
authors.forename: C
authors.initials: C
authors.lastname: Sprekelsen Gassó
authors.forename: M
authors.initials: M
authors.lastname: Navarro Navarro
authors.forename: J L
authors.initials: JL
authors.lastname: Làfuente De Entrambasaguas
authors.forename: A
authors.initials: A
authors.lastname: Capitán Guarnizo
authors.forename: F
authors.initials: F
authors.lastname: Argudo Marco
mesh_terms: D003051:Cochlea / Q000002:abnormalities / Q000000981:diagnostic imaging; D018450:Disease Progression; D006312:Hearing Loss, Bilateral / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D013201:Stapes Surgery / Q000009:adverse effects*; D014057:Tomography, X-Ray Computed; D014960:X Chromosome / Q000235:genetics*
vernacular_title: Hipoacusia mixta familiar asociada al cromosoma X con gusher estapedial.