{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T15:18:59Z","timestamp":1777562339244,"version":"3.51.4"},"reference-count":26,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2024,12,6]],"date-time":"2024-12-06T00:00:00Z","timestamp":1733443200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Ear Nose Throat J"],"abstract":"<jats:p>Background: Congenital depigmentation may be associated with congenital sensorineural hearing loss leading to non-development of verbal speech. Objective: To illustrate the clinical features and work-up of 3 children diagnosed with auditory pigmentary disorders (APDs). Methodology: Case series with a review of the literature. Results: The APDs presented here in the 3 children include Waardenburg syndrome type 1, Clouston syndrome, and Waardenburg syndrome type 4 (Waardenburg-Shah syndrome). The characteristic clinical features, audiologic tests, imaging, and the necessary genetic tests carried out subsequently were noted and evaluated. All the children were male and were aged 2 years, 1 year, and 14 months, respectively. All of them had hearing loss and non-development of verbal speech and had some form of oculocutaneous depigmentation. The challenges in the diagnosis, the work-up, and the close differentials were discussed, and the relevant literature was reviewed. Conclusions: The APDs connect congenital depigmentation with prelingual hearing loss through various syndromic disorders. These disorders are not commonly encountered in routine clinical practice; therefore, their proper knowledge is essential for early diagnosis of congenital hearing loss and timely initiation of auditory and speech rehabilitation. This case series deals with a detailed illustration of a few syndromes of the APDs and highlights their clinical presentation and genetic background.<\/jats:p>","DOI":"10.1177\/01455613241306049","type":"journal-article","created":{"date-parts":[[2024,12,6]],"date-time":"2024-12-06T07:53:01Z","timestamp":1733471581000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Syndromic Association of Depigmentation With Congenital Hearing Loss: A Review of Three Children With Auditory Pigmentary Disorders"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-2373-1394","authenticated-orcid":false,"given":"Shabari","family":"Ghosh","sequence":"first","affiliation":[{"name":"Department of Otorhinolaryngology and Head-Neck Surgery, Medical College and Hospital, Kolkata, West Bengal, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3977-3230","authenticated-orcid":false,"given":"Mainak","family":"Dutta","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology and Head-Neck Surgery, All India Institute of Medical Sciences, Kalyani, Nadia, West Bengal, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diptanshu","family":"Mukherjee","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology and Head-Neck Surgery, Medical College and Hospital, Kolkata, West Bengal, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dibyendu","family":"Raychaudhuri","sequence":"additional","affiliation":[{"name":"Department of Pediatric Medicine, Medical College and Hospital, Kolkata, West Bengal, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saumendra Nath","family":"Bandyopadhyay","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology and Head-Neck Surgery, Medical College and Hospital, Kolkata, West Bengal, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2024,12,6]]},"reference":[{"key":"bibr1-01455613241306049","doi-asserted-by":"publisher","DOI":"10.1080\/16513860310003076"},{"key":"bibr2-01455613241306049","doi-asserted-by":"publisher","DOI":"10.1016\/s0896-6273(01)00259-8"},{"key":"bibr3-01455613241306049","doi-asserted-by":"publisher","DOI":"10.1080\/21695717.2018.1461488"},{"key":"bibr4-01455613241306049","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2020.12.029"},{"key":"bibr5-01455613241306049","doi-asserted-by":"publisher","DOI":"10.1111\/coa.13011"},{"key":"bibr6-01455613241306049","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-024-52629-9"},{"issue":"3","key":"bibr7-01455613241306049","first-page":"195","volume":"3","author":"Waardenburg PJ","year":"1951","journal-title":"Am J Hum Genet"},{"key":"bibr8-01455613241306049","doi-asserted-by":"publisher","DOI":"10.1038\/s41434-021-00240-2"},{"key":"bibr9-01455613241306049","first-page":"1993","volume-title":"GeneReviews\u00ae","volume":"2001","author":"Milunsky JM"},{"key":"bibr10-01455613241306049","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12631"},{"key":"bibr11-01455613241306049","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2019.04.023"},{"key":"bibr12-01455613241306049","doi-asserted-by":"publisher","DOI":"10.4103\/ijd.IJD_510_17"},{"key":"bibr13-01455613241306049","doi-asserted-by":"publisher","DOI":"10.1590\/abd1806-4841.20175716"},{"key":"bibr14-01455613241306049","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-8628(19970711)71:1<80::aid-ajmg15>3.0.co;2-r"},{"key":"bibr15-01455613241306049","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2013.4766"},{"key":"bibr16-01455613241306049","doi-asserted-by":"publisher","DOI":"10.1590\/abd1806-4841.20153990"},{"key":"bibr17-01455613241306049","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.59858"},{"key":"bibr18-01455613241306049","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijscr.2022.106952"},{"key":"bibr19-01455613241306049","doi-asserted-by":"publisher","DOI":"10.1186\/s13256-018-1953-z"},{"key":"bibr20-01455613241306049","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-015-0352-z"},{"key":"bibr21-01455613241306049","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaa176"},{"key":"bibr22-01455613241306049","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-023-01437-2"},{"key":"bibr23-01455613241306049","doi-asserted-by":"publisher","DOI":"10.1080\/21695717.2019.1630979"},{"key":"bibr24-01455613241306049","doi-asserted-by":"publisher","DOI":"10.1177\/014556130007900909"},{"key":"bibr25-01455613241306049","doi-asserted-by":"publisher","DOI":"10.1159\/000444120"},{"key":"bibr26-01455613241306049","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2009.10.007"}],"container-title":["Ear, Nose &amp; Throat Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/01455613241306049","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/01455613241306049","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/01455613241306049","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T18:36:01Z","timestamp":1777401361000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/01455613241306049"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,6]]},"references-count":26,"alternative-id":["10.1177\/01455613241306049"],"URL":"https:\/\/doi.org\/10.1177\/01455613241306049","relation":{},"ISSN":["0145-5613","1942-7522"],"issn-type":[{"value":"0145-5613","type":"print"},{"value":"1942-7522","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,6]]},"article-number":"01455613241306049"}}