{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T16:17:15Z","timestamp":1764173835001,"version":"3.40.3"},"reference-count":7,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>The Bardet\u2013Biedl syndrome (BBS) is a human genetic disorder with an array of clinical features affecting many body systems. BBS is a pleiotropic disorder with mostly monogenic causes. It is also considered a primary ciliopathy syndrome. It is characterised by obesity, pigmentary retinopathy, polydactyly, mental deficiency and hypogonadism and recently a sixth feature, renal disease, has also been described. Since none of the diverse symptoms of BBS by itself is diagnostic of the disorder and many of the symptoms only become apparent over time, diagnosis of the BBS is often delayed until about 9 years of age when visual problems first appear.<\/jats:p>","DOI":"10.1136\/bcr.12.2011.5320","type":"journal-article","created":{"date-parts":[[2012,4,24]],"date-time":"2012-04-24T22:14:48Z","timestamp":1335305688000},"page":"bcr1220115320","source":"Crossref","is-referenced-by-count":9,"title":["Oro-dental findings in Bardet\u2013Biedl syndrome"],"prefix":"10.1136","author":[{"given":"Utpal","family":"Majumdar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gaurav","family":"Arya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Santosh","family":"Singh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ajay","family":"Pillai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Preeti P","family":"Nair","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2012,4,24]]},"reference":[{"key":"2025040405293957000_2012.apr23_1.bcr1220115320.1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh092"},{"key":"2025040405293957000_2012.apr23_1.bcr1220115320.2","doi-asserted-by":"publisher","DOI":"10.4103\/0971-6866.19538"},{"key":"2025040405293957000_2012.apr23_1.bcr1220115320.3","doi-asserted-by":"publisher","DOI":"10.4103\/0971-4065.35014"},{"key":"2025040405293957000_2012.apr23_1.bcr1220115320.4","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.121.6.804"},{"key":"2025040405293957000_2012.apr23_1.bcr1220115320.5","first-page":"563","article-title":"Sonographic measurement of the normal bladder wall in children.","volume":"149","author":"Sigrid","year":"1987","journal-title":"Am J Radiol"},{"key":"2025040405293957000_2012.apr23_1.bcr1220115320.6","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1302\/0301-620X.52B2.318","article-title":"The Laurence-Moon-Biedl-Bardet syndrome. Report of three cases in a Jewish Yemenite family.","volume":"52","author":"Levy","year":"1970","journal-title":"J Bone Joint Surg Br"},{"key":"2025040405293957000_2012.apr23_1.bcr1220115320.7","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"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr.12.2011.5320","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,4]],"date-time":"2025-04-04T18:02:20Z","timestamp":1743789740000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr.12.2011.5320"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4,24]]},"references-count":7,"alternative-id":["10.1136\/bcr.12.2011.5320"],"URL":"https:\/\/doi.org\/10.1136\/bcr.12.2011.5320","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2012,4,24]]}}}