{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T13:21:05Z","timestamp":1783344065139,"version":"3.54.6"},"reference-count":5,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","license":[{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>\n                    A\n                    <jats:sc>BSTRACT<\/jats:sc>\n                  <\/jats:title>\n                  <jats:p>A 16-year-old boy from consanguineous parents, carrying a homozygous USH2A mutation and multiple congenital anomalies, presented with distal esophageal squamous cell carcinoma \u2013 likely the first such case documented. This report underscores the value of genetic testing and multidisciplinary management, demonstrating feasible surgery-only treatment in a frail adolescent with an expanded USH2A phenotype.<\/jats:p>","DOI":"10.4103\/jiaps.jiaps_404_25","type":"journal-article","created":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T16:31:00Z","timestamp":1783009860000},"page":"649-652","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Rare Case of Esophageal Squamous Cell Carcinoma in an Adolescent with Multiple Congenital Anomalies and Homozygous USH2A Mutation"],"prefix":"10.4103","volume":"31","author":[{"given":"Arvind","family":"Krishnamurthy","sequence":"first","affiliation":[{"name":"Division of Surgical Oncology, Cancer Institute, Chennai, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nandhini","family":"Vighneshwar","sequence":"additional","affiliation":[{"name":"Division of Surgical Oncology, Cancer Institute, Chennai, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gurushankari","family":"Balakrishnan","sequence":"additional","affiliation":[{"name":"Division of Surgical Oncology, Cancer Institute, Chennai, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Venkatraman","family":"Radhakrishnan","sequence":"additional","affiliation":[{"name":"Division of Medical Oncology, Cancer Institute, Chennai, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2026,7,2]]},"reference":[{"key":"R1-20260706","first-page":"394","article-title":"Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries","volume":"68","author":"Bray","year":"2018","journal-title":"CA Cancer J Clin"},{"key":"R2-20260706","doi-asserted-by":"crossref","first-page":"e94","DOI":"10.1097\/MPH.0000000000002772","article-title":"Esophageal carcinoma in children: Report of 2 cases and a review of the literature","volume":"46","author":"Co\u015fkun","year":"2024","journal-title":"J Pediatr Hematol Oncol"},{"key":"R3-20260706","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1016\/j.bbadis.2014.11.020","article-title":"Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities","author":"Mathur","year":"2015","journal-title":"Biochim Biophys Acta"},{"key":"R4-20260706","doi-asserted-by":"crossref","first-page":"900548","DOI":"10.3389\/fgene.2022.900548","article-title":"Genetic characteristics and variation spectrum of USH2A-related retinitis pigmentosa and usher syndrome","volume":"13","author":"Li","year":"2022","journal-title":"Front Genet"},{"key":"R5-20260706","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1093\/hmg\/11.7.833","article-title":"Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)","volume":"11","author":"Hamada","year":"2002","journal-title":"Hum Mol Genet"}],"container-title":["Journal of Indian Association of Pediatric Surgeons"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.4103\/jiaps.jiaps_404_25","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T13:02:29Z","timestamp":1783342949000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/10.4103\/jiaps.jiaps_404_25"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7]]},"references-count":5,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.4103\/jiaps.jiaps_404_25","relation":{},"ISSN":["0971-9261","1998-3891"],"issn-type":[{"value":"0971-9261","type":"print"},{"value":"1998-3891","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7]]},"assertion":[{"value":"2025-11-13","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-24","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}