{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T19:26:55Z","timestamp":1787772415340,"version":"build-2784847793"},"reference-count":6,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>Bardet\u2013Biedl syndrome is an autosomal-recessive ciliopathic disorder affecting multiple organ systems. Characteristic features include progressive retinal dystrophy, obesity, polydactyly hypogonadism, mental retardation, and renal disorders. Other manifestations include congenital heart diseases, hepatic fibrosis, ataxia, and diabetes. Approximately 30% of patients with Biedl\u2013Bardet syndrome (BBS) have hepatobiliary disorders such as periportal fibrosis, nonalcoholic fatty liver disease, and cystic dilation of the bile ducts. The association of BBS with choledochal cysts (CDC) is extremely rare. Here, we report a case of a 14-year-old boy with a novel variant of BBS and associated type IV CDC. The patient was managed surgically with CDC excision and Roux-en-Y hepaticojejunostomy.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/jiaps.jiaps_124_23","type":"journal-article","created":{"date-parts":[[2024,5,24]],"date-time":"2024-05-24T10:25:50Z","timestamp":1716546350000},"page":"520-522","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Bardet\u2013Biedl Syndrome with Choledochal Cyst"],"prefix":"10.4103","volume":"28","author":[{"given":"Saket","family":"Kumar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. G.","family":"Harisankar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nidhi","family":"Singh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rakesh Kumar","family":"Singh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nilay","family":"Mayank","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-13-20240905","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1136\/jmg.36.6.437","article-title":"New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey","volume":"36","author":"Beales","year":"1999","journal-title":"J Med Genet"},{"key":"R3-13-20240905","doi-asserted-by":"crossref","first-page":"3334","DOI":"10.3748\/wjg.v25.i26.3334","article-title":"Choledochal cysts: Similarities and differences between Asian and Western countries","volume":"25","author":"Baison","year":"2019","journal-title":"World J Gastroenterol"},{"key":"R5-13-20240905","first-page":"40","article-title":"Bardet Biedl syndrome with choledochal cyst; A very rare case report","volume":"31","author":"Warid","year":"2019","journal-title":"J Med Sci Res"},{"key":"R6-13-20240905","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1159\/000357054","article-title":"Update on the genetics of Bardet-Biedl syndrome","volume":"5","author":"M'hamdi","year":"2014","journal-title":"Mol Syndromol"},{"key":"R7-13-20240905","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1111\/cge.12342","article-title":"Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort","volume":"87","author":"Sathya Priya","year":"2015","journal-title":"Clin Genet"},{"key":"R8-13-20240905","first-page":"231","article-title":"Congenital choledochal cysts: New etiological concept based on anomalous relationships of the common bile duct and pancreatic bulb","volume":"12","author":"Babbitt","year":"1969","journal-title":"Ann Radiol (Paris"}],"container-title":["Journal of Indian Association of Pediatric Surgeons"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/jiaps.jiaps_124_23","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T18:45:34Z","timestamp":1787769934000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/jiaps.jiaps_124_23"}},"subtitle":["Rare Association with a Novel Variant"],"short-title":[],"issued":{"date-parts":[[2023,11]]},"references-count":6,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023]]}},"URL":"https:\/\/doi.org\/10.4103\/jiaps.jiaps_124_23","relation":{},"ISSN":["0971-9261"],"issn-type":[{"value":"0971-9261","type":"print"}],"subject":[],"published":{"date-parts":[[2023,11]]}}}