{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T19:23:51Z","timestamp":1791487431220,"version":"4.3.4"},"reference-count":13,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2014,5,13]]},"abstract":"<jats:title>SUMMARY<\/jats:title>\n               <jats:p>Although mental retardation is generally associated with Bardet-Biedl (BBS) syndrome, a rare autosomal recessive disorder with multisystem involvement, autism is an unusual comorbidity. An 8-year-old boy presented to our psychiatry department with poor social skills and night blindness. On further assessment autism, mild mental retardation, retinitis pigmentosa, polydactyly and syndactyly, obesity, micropenis, maldescended testis, hypodontia and high-arched palate were noted and subsequently a diagnosis of BBS was made. To the best of our knowledge, this is the first reported case of BBS with autism from eastern India; it also emphasises the importance of thorough physical examination even in a patient presenting with pure psychiatric symptoms.<\/jats:p>","DOI":"10.1136\/bcr-2014-203882","type":"journal-article","created":{"date-parts":[[2014,6,4]],"date-time":"2014-06-04T07:32:56Z","timestamp":1401867176000},"page":"bcr2014203882","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":11,"title":["Autism: a rare presentation of Bardet-Biedl syndrome"],"prefix":"10.1136","volume":"2014","author":[{"given":"Seshadri Sekhar","family":"Chatterjee","sequence":"first","affiliation":[{"name":"Department of Psychiatry, Medical College Kolkata, Kolkata, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prathama","family":"Guha","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Medical College Kolkata, Kolkata, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arunansu","family":"Talukdar","sequence":"additional","affiliation":[{"name":"Department of General Medicine, Medical College Kolkata, Kolkata, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gargi","family":"Dasgupta","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Medical College Kolkata, Kolkata, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2014,6,4]]},"reference":[{"key":"2025082905150606000_2014.jun04_1.bcr2014203882.1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1194004"},{"key":"2025082905150606000_2014.jun04_1.bcr2014203882.2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.36.6.437"},{"key":"2025082905150606000_2014.jun04_1.bcr2014203882.3","first-page":"15","article-title":"Malin's intelligence scale for children","volume":"4","author":"Malin","year":"1971","journal-title":"Indian J Ment Retard"},{"key":"2025082905150606000_2014.jun04_1.bcr2014203882.4","doi-asserted-by":"publisher","DOI":"10.1007\/BF02408436"},{"key":"2025082905150606000_2014.jun04_1.bcr2014203882.5","doi-asserted-by":"publisher","DOI":"10.4103\/0253-7176.92043"},{"key":"2025082905150606000_2014.jun04_1.bcr2014203882.6","unstructured":"World Health Organization. The ICD-10 classification of mental and behavioural disorders\u2014diagnostic criteria for research. Geneva: World Health Organization, 1992."},{"key":"2025082905150606000_2014.jun04_1.bcr2014203882.7","unstructured":"Bardet G . Sur un syndrome d'ob\u0117sit\u0117 infantile avec polydactyly et r\u0117tinite pigmentaire [Thesis]. France: University of Paris, 1920."},{"key":"2025082905150606000_2014.jun04_1.bcr2014203882.8","first-page":"94","article-title":"Manifestations of Bardet-Beidl syndrome","volume":"29","author":"Kristine","year":"2004","journal-title":"Phillip J Ophthalmol"},{"key":"2025082905150606000_2014.jun04_1.bcr2014203882.9","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198910123211503"},{"key":"2025082905150606000_2014.jun04_1.bcr2014203882.10","first-page":"305","article-title":"Electroretinography and diagnosis of the Laurence-Moon-Bardet-Biedl syndrome in childhood","volume":"14","author":"Prosperi","year":"1977","journal-title":"J Pediatr Ophthalmol"},{"key":"2025082905150606000_2014.jun04_1.bcr2014203882.11","unstructured":"Waters AM Beales PL . Bardet-Biedl syndrome. 2003 Jul 14 [Updated 29 Sep 2011]. In: Pagon RA Adam MP Bird TD . eds. GeneReviews\u2122 [Internet]. Seattle, WA: University of Washington, Seattle, 1993\u20132013. PMID:20301537."},{"key":"2025082905150606000_2014.jun04_1.bcr2014203882.12","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.1995.tb03306.x"},{"key":"2025082905150606000_2014.jun04_1.bcr2014203882.13","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.12.e76"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2014-203882","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T12:15:18Z","timestamp":1756469718000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2014-203882"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6,4]]},"references-count":13,"alternative-id":["10.1136\/bcr-2014-203882"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2014-203882","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,6,4]]}}}