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The study was aimed to analyse the clinical and audiological features of a monocentric cohort of Caucasian patients with NSEVA\/PDS, their genetic assessment and morphological inner ear features.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We retrospectively reviewed the audiologic, genetic and anamnestic data of 66 patients with NSEVA\/PDS followed by our audiology service.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      SLC26A4 mutations was significantly correlated with the presence of PDS rather than NSEVA (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.019), with the expression of inner ear malformations (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001) and with different severity of hearing loss (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.001). Furthermore, patients with PDS showed significantly worse pure tone audiometry (PTA) than patients with NSEVA (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.001). Anatomically normal ears presented significantly better PTA than ears associated with Mondini Malformation or isolated EVA (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001), but no statistically significative differences have been observed in PTA between patients with Mondini Malformation and isolated EVA.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>NSEVA\/PDS must be investigated in all the congenital hearing loss, but also in progressive, late onset, stepwise forms. Even mixed or fluctuating hearing loss may constitute a sign of a NSEVA\/PDS pathology. Our findings can confirm the important role of SLC26A4 mutations in determining the phenotype of isolated EVA\/PDS, both for the type\/degree of the malformation, the hearing impairment and the association with thyroid dysfunction.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s00405-020-06333-9","type":"journal-article","created":{"date-parts":[[2020,9,10]],"date-time":"2020-09-10T06:27:51Z","timestamp":1599719271000},"page":"2305-2312","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":35,"title":["Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features"],"prefix":"10.1007","volume":"278","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4422-0120","authenticated-orcid":false,"given":"F.","family":"Forli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Lazzerini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Auletta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Bruschini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Berrettini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,9,10]]},"reference":[{"issue":"3 Pt 2 Suppl 40","key":"6333_CR1","first-page":"2","volume":"97","author":"RK Jackler","year":"1987","unstructured":"Jackler RK, Luxford WM, House WF (1987) Congenital malformations of the inner ear: a classification based on embryogenesis. 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