{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T21:07:27Z","timestamp":1790888847068,"version":"4.1.0"},"reference-count":9,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T00:00:00Z","timestamp":1776124800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Beckwith\u2013Wiedemann syndrome (BWS) is a rare congenital overgrowth disorder caused by genetic and epigenetic alterations on chromosome 11p15.5. While macroglossia, abdominal wall defects, and tumor predisposition are well recognized, hearing impairment has been sporadically reported. Objectives: The aim of this study is to review audiological features, surgical management, and rehabilitation in BWS, and we additionally present three cases with comprehensive longitudinal audiological follow-up. Methods: A systematic review of PubMed and Scopus was conducted according to PRISMA guidelines, including studies reporting audiological findings in patients with confirmed BWS. Studies without audiological data or reporting only normal-hearing patients were excluded. Data on hearing loss type, severity, genetics, clinical features, imaging, surgical interventions, and outcomes were extracted. A narrative synthesis was conducted; no meta-analysis was performed due to the heterogeneity and limited number of available studies. Data extraction was performed independently by two reviewers who independently screened titles, abstracts, and full texts, with disagreements resolved by discussion. In addition, three original case reports from our institution were included to further illustrate the clinical and rehabilitative variability of hearing impairment in BWS. Results: We identified 40 patients from the review, but only 12 of them reported audiological data (e.g., hearing thresholds, type of hearing loss, or diagnostic tests). Ossicular chain anomalies, particularly stapes fixation, were frequently observed. Surgical management improved hearing in selected cases, while bone conduction devices (BCD) or conventional amplification were effective alternatives when surgery was contraindicated. Genetic analyses revealed CDKN1C mutations or imprinting defects in nine patients. Conclusions: Hearing impairment in BWS is clinically relevant and often conductive, likely related to middle-ear anomalies. Early, multidisciplinary audiological evaluation\u2014including imaging when indicated\u2014and individualized rehabilitation can optimize auditory and communicative outcomes. The evidence is limited by the small number of studies and heterogeneous reporting of audiological outcomes.<\/jats:p>","DOI":"10.3390\/genes17040453","type":"journal-article","created":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T10:29:08Z","timestamp":1776162548000},"page":"453","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["The Audiological Aspect of Beckwith\u2013Wiedemann Syndrome: A Systematic Review"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-1019-0279","authenticated-orcid":false,"given":"Sara","family":"Parretta","sequence":"first","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery, University Hospital of Modena, 41125 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-4506-3499","authenticated-orcid":false,"given":"Michele","family":"Pellegrino","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery, University Hospital of Modena, 41125 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Luppi","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery, University Hospital of Modena, 41125 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Braglia","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery, University Hospital of Modena, 41125 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Genovese","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery, University Hospital of Modena, 41125 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Soloperto","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery, University Hospital of Modena, 41125 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,4,14]]},"reference":[{"key":"ref_1","unstructured":"Orphanet (2026, February 10). Beckwith-Wiedemann Syndrome (ORPHA:116). Orphanet Encyclopedia of Rare Diseases 2026. Available online: https:\/\/www.orpha.net\/it\/disease\/detail\/116."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1038\/nrendo.2017.166","article-title":"Clinical and molecular diagnosis, screening and management of Beckwith\u2013Wiedemann syndrome: An international consensus statement","volume":"14","author":"Brioude","year":"2018","journal-title":"Nat. Rev. Endocrinol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1038\/ejhg.2009.106","article-title":"Beckwith\u2013Wiedemann syndrome","volume":"18","author":"Weksberg","year":"2010","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_4","first-page":"2001","article-title":"Scope of hearing loss in Beckwith\u2013Wiedemann syndrome and hemihypertrophy","volume":"176","author":"Camet","year":"2018","journal-title":"Am. J. Med. Genet. 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Head Neck Surg."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1002\/ajmg.a.35663","article-title":"A novel mutation in CDKN1C in sibs with Beckwith\u2013Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases","volume":"161A","author":"Kantaputra","year":"2013","journal-title":"Am. J. Med. Genet. A"}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/17\/4\/453\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T10:43:22Z","timestamp":1776163402000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/17\/4\/453"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,14]]},"references-count":9,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2026,4]]}},"alternative-id":["genes17040453"],"URL":"https:\/\/doi.org\/10.3390\/genes17040453","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,14]]}}}