{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T03:53:48Z","timestamp":1793332428375,"version":"4.5.0"},"reference-count":43,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2023,8,4]],"date-time":"2023-08-04T00:00:00Z","timestamp":1691107200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"MDPI Audiology Research courtesy exemption","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Audiology Research"],"abstract":"<jats:p>Conductive hearing losses are typically present in disorders of the external\/middle ear. However, there is a rare group of inner ear conditions called third windows that can also generate a conductive hearing loss. This is due to an abnormal connection between the middle and the inner ear or between the inner ear and the cranial cavity. X-linked gusher disorder is an extremely rare congenital inner ear dysplastic syndrome with an abnormal connection due to a characteristic incomplete cochlear partition type III and an incomplete internal auditory meatus fundus. The disorder is inherited in an X-linked fashion due to the mutation of the POU3F4 gene. We present two siblings diagnosed with the condition and their long-term follow-ups. They both presented audiovestibular symptoms and showed progressive mixed losses and bilateral vestibular weakness. They were treated with cochlear implant, digital amplification and with vestibular rehabilitation. Significant others around them were involved in their journey with the medical team, and in both, a very favourable outcome was achieved. This is the first time that we have reported evolving audiovestibular function with vestibular quantification in X-linked gusher disorder and emphasize on the multidisciplinary holistic approach to manage these children effectively.<\/jats:p>","DOI":"10.3390\/audiolres13040052","type":"journal-article","created":{"date-parts":[[2023,8,4]],"date-time":"2023-08-04T09:28:34Z","timestamp":1691141314000},"page":"600-614","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["X-Linked Gusher Disease DFNX2 in Children, a Rare Inner Ear Dysplasia with Mixed Hearing and Vestibular Loss"],"prefix":"10.3390","volume":"13","author":[{"given":"Soumit","family":"Dasgupta","sequence":"first","affiliation":[{"name":"Alder Hey Children\u2019s Hospital NHS Foundation Trust, Eaton Road, Liverpool L14 5AB, UK"},{"name":"Faculty of Health and Medical Sciences, University of Liverpool, Liverpool L69 3BX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Hong","sequence":"additional","affiliation":[{"name":"Faculty of Health and Medical Sciences, University of Liverpool, Liverpool L69 3BX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rhyanna","family":"Morris","sequence":"additional","affiliation":[{"name":"Faculty of Health and Medical Sciences, University of Liverpool, Liverpool L69 3BX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javed","family":"Iqbal","sequence":"additional","affiliation":[{"name":"East Lancashire Hospitals NHS Trust, Burnley BB10 2PQ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6665-7425","authenticated-orcid":false,"given":"Amy","family":"Lennox-Bowley","sequence":"additional","affiliation":[{"name":"Hypatia Dizziness and Balance Centre, Liverpool L1 9ED, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1974-4379","authenticated-orcid":false,"given":"Jeyasakthy","family":"Saniasiaya","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Malaya, Kualalampur 50603, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,4]]},"reference":[{"key":"ref_1","first-page":"64","article-title":"X-linked deafness with congenital fixation of the stapedial footplate and perilymphatic gusher","volume":"7","author":"Nance","year":"1971","journal-title":"Birth Defects"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1007\/BF00587816","article-title":"X-linked deafness, stapes gushers, and a distinctive defect of the inner ear","volume":"33","author":"Phelps","year":"1991","journal-title":"Neuroradiology"},{"key":"ref_3","first-page":"177","article-title":"Computed tomographic diagnosis of X-linked congenital mixed deafness, fixation of the stapedial footplate, and perilymphatic gusher","volume":"15","author":"Talbot","year":"1994","journal-title":"Am. 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