{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T12:02:27Z","timestamp":1756382547411,"version":"3.40.4"},"reference-count":12,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2015,11,4]]},"abstract":"<jats:p>Bardet-Biedl syndrome (BBS) is a rare congenital ciliopathy characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism and renal dysfunction. A 45-year-old Indian man presented with New York Heart Association class 2 dyspnoea of 3\u2005months duration. He was blind since childhood. He was obese, cyanosed, and had clubbing and polydactyly. Systemic examination revealed presence of wide and fixed split second heart sound with systolic murmur in the left parasternal area. Work up unmasked the presence of secondary polycythaemia, atypical retinitis pigmentosa and partial atrioventricular defect. He was diagnosed to have BBS based on clinical and radiological features. This case is interesting for its rarity and also for the peculiarity of its cardiovascular association. Polydactyly with a suspicious clinical background is the clue and by itself warrants the clinician to search for occult anomalies. Clinicians must be aware of this syndrome, for which an early diagnosis and a multidisciplinary approach will significantly improve mortality and morbidity in patients.<\/jats:p>","DOI":"10.1136\/bcr-2015-211776","type":"journal-article","created":{"date-parts":[[2015,11,26]],"date-time":"2015-11-26T16:52:31Z","timestamp":1448556751000},"page":"bcr2015211776","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Bardet-Biedl syndrome: multiple fingers with multiple defects!"],"prefix":"10.1136","volume":"2015","author":[{"given":"Jagadesh","family":"Madireddi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vasuveda","family":"Acharya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jandhyala","family":"Suryanarayana","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Handattu Manjunath","family":"Hande","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ranjan","family":"Shetty","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2015,11,26]]},"reference":[{"key":"2025042707433742000_2015.nov26_1.bcr2015211776.1","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":"2025042707433742000_2015.nov26_1.bcr2015211776.2","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1002\/j.1550-8528.1995.tb00166.x","article-title":"Four cases of \u2018retinitis pigmentosa\u2019 occurring in the same family, and accompanied by general imperfections of development. 1866","volume":"3","author":"Laurence","year":"1995","journal-title":"Obes Res"},{"key":"2025042707433742000_2015.nov26_1.bcr2015211776.3","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1002\/j.1550-8528.1995.tb00165.x","article-title":"On congenital obesity syndrome with polydactyly and retinitis pigmentosa (a contribution to the study of clinical forms of hypophyseal obesity). 1920","volume":"3","author":"Bardet","year":"1995","journal-title":"Obes Res"},{"key":"2025042707433742000_2015.nov26_1.bcr2015211776.4","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1002\/j.1550-8528.1995.tb00167.x","article-title":"A pair of siblings with adiposo-genital dystrophy. 1922","volume":"3","author":"Biedl","year":"1995","journal-title":"Obes Res"},{"key":"2025042707433742000_2015.nov26_1.bcr2015211776.5","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/ajmg.a.30406","article-title":"Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study","volume":"132A","author":"Moore","year":"2005","journal-title":"Am J Med Genet A"},{"key":"2025042707433742000_2015.nov26_1.bcr2015211776.6","doi-asserted-by":"publisher","DOI":"10.4103\/0971-4065.57108"},{"key":"2025042707433742000_2015.nov26_1.bcr2015211776.7","unstructured":"Forsythe E , Beales PL . Bardet-Biedl Syndrome. 2003 Jul 14 [updated 2015 Apr 23]. In: Pagon RA , Adam MP , Ardinger HH , et al , eds. GeneReviews. Seattle, WA: University of Washington, Seattle, 1993\u20132015. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1363\/"},{"key":"2025042707433742000_2015.nov26_1.bcr2015211776.8","doi-asserted-by":"publisher","DOI":"10.2174\/138920211795860107"},{"key":"2025042707433742000_2015.nov26_1.bcr2015211776.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibtech.2013.03.005"},{"key":"2025042707433742000_2015.nov26_1.bcr2015211776.10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520208"},{"key":"2025042707433742000_2015.nov26_1.bcr2015211776.11","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000232482.21714.86"},{"key":"2025042707433742000_2015.nov26_1.bcr2015211776.12","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.03320410"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2015-211776","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T14:43:44Z","timestamp":1745765024000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2015-211776"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,11,26]]},"references-count":12,"alternative-id":["10.1136\/bcr-2015-211776"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2015-211776","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2015,11,26]]}}}