{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T04:32:32Z","timestamp":1769747552622,"version":"3.49.0"},"reference-count":20,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,1,9]]},"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive genetic disorder. Polydactyly, obesity, pigmentary retinal degeneration, intellectual disability, kidney abnormalities and hypogonadism are common features. We report an infant who presented with obesity, micropenis, polydactyly and syndromic features, raising suspicion of a genetic syndrome. Infantile obesity is among the most common clinical findings in BBS. Whole-exome sequencing confirmed a mutation in the BBS4 gene which was homozygous and associated with BBS. The child was discharged in stable condition after 11 days of hospitalisation. On follow-up after 2 years of age, setmelanotide is planned to be initiated for his weight management. Infantile obesity, a rare and early manifestation, played a pivotal role in suspecting syndromic obesity, leading to targeted genetic investigations. The case highlights the importance of recognising early-onset obesity as a diagnostic clue for genetic syndromes by performing next-generation sequencing critical to make firm diagnosis of BBS.<\/jats:p>","DOI":"10.1136\/bcr-2025-268160","type":"journal-article","created":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T14:40:24Z","timestamp":1769697624000},"page":"e268160","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Bardet-Biedl syndrome presenting with early-onset infantile obesity"],"prefix":"10.1136","volume":"19","author":[{"given":"Patlolla","family":"Akhila","sequence":"first","affiliation":[{"name":"Department of Pediatrics, All India Institute of Medical Sciences Mangalagiri (AIIMS), Mangalagiri, Andhra Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jyothi","family":"Naik","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, All India Institute of Medical Sciences Mangalagiri (AIIMS), Mangalagiri, Andhra Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1123-5270","authenticated-orcid":false,"given":"Thirunavukkarasu","family":"Arun Babu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, All India Institute of Medical Sciences Mangalagiri (AIIMS), Mangalagiri, Andhra Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2026,1,29]]},"reference":[{"key":"2026012906401540000_19.1.e268160.1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.36.6.437"},{"key":"2026012906401540000_19.1.e268160.2","unstructured":"National Organization for Rare Disorders (NORD) . Bardet-biedl syndrome. Danbury (CT): NORD. 2025 Available: https:\/\/rarediseases.org\/rare-diseases\/bardet-biedl-syndrome\/"},{"key":"2026012906401540000_19.1.e268160.3","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198910123211503"},{"key":"2026012906401540000_19.1.e268160.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.tem.2011.02.009"},{"key":"2026012906401540000_19.1.e268160.5","unstructured":"National Organization for Rare Disorders (NORD) . Laurence-moon syndrome. Danbury (CT): NORD; 2025. Available: https:\/\/rarediseases.org\/rare-diseases\/laurence-moon-syndrome\/"},{"key":"2026012906401540000_19.1.e268160.6","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.115"},{"key":"2026012906401540000_19.1.e268160.7","doi-asserted-by":"crossref","DOI":"10.1111\/ijpo.12703","article-title":"Bardet-Biedl syndrome: Weight patterns and genetics in a rare obesity syndrome","volume":"16","author":"Pomeroy","year":"2021","journal-title":"Pediatr Obes"},{"key":"2026012906401540000_19.1.e268160.8","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-2290"},{"key":"2026012906401540000_19.1.e268160.9","first-page":"15480","article-title":"Bardet-Biedl Syndrome: A Focus on Genetics, Mechanisms & Metabolic Implications","volume":"23","year":"2021","journal-title":"Dom Metab"},{"key":"2026012906401540000_19.1.e268160.10","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23862"},{"key":"2026012906401540000_19.1.e268160.11","first-page":"146","article-title":"A comprehensive review of Bardet-Biedl syndrome","volume":"7","author":"Boudreau","year":"2018","journal-title":"J Clin Med"},{"key":"2026012906401540000_19.1.e268160.12","doi-asserted-by":"publisher","DOI":"10.1086\/428679"},{"key":"2026012906401540000_19.1.e268160.13","first-page":"5","article-title":"BBS: Genetic and clinical findings in a cohort of patients","volume":"30","author":"Al-Mahdawi","year":"2023","journal-title":"Middle East Curr Psychiatry"},{"key":"2026012906401540000_19.1.e268160.14","doi-asserted-by":"crossref","first-page":"2065","DOI":"10.1007\/s00467-012-2220-y","article-title":"Obesity in patients with Bardet-Biedl syndrome: influence of appetite-regulating hormones","volume":"27","author":"B\u00fcscher","year":"2012","journal-title":"Pediatr Nephrol"},{"key":"2026012906401540000_19.1.e268160.15","doi-asserted-by":"publisher","DOI":"10.1530\/JOE-14-0480"},{"key":"2026012906401540000_19.1.e268160.16","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp031"},{"key":"2026012906401540000_19.1.e268160.17","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2013.11.011"},{"key":"2026012906401540000_19.1.e268160.18","doi-asserted-by":"crossref","DOI":"10.1172\/JCI146287","article-title":"Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons","volume":"131","author":"Wang","year":"2021","journal-title":"J Clin Invest"},{"key":"2026012906401540000_19.1.e268160.19","first-page":"915","article-title":"Antenatal diagnosis of Bardet-Biedl syndrome in a family with known genetic history","volume":"35","author":"Dar","year":"2015","journal-title":"Prenat Diagn"},{"key":"2026012906401540000_19.1.e268160.20","doi-asserted-by":"crossref","first-page":"1403","DOI":"10.1016\/j.ekir.2020.06.017","article-title":"Exploring Key Challenges of Understanding the Pathogenesis of Kidney Disease in Bardet-Biedl Syndrome","volume":"5","author":"Marchese","year":"2020","journal-title":"Kidney Int Rep"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-268160","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T14:40:27Z","timestamp":1769697627000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-268160"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":20,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,1,29]]},"published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1136\/bcr-2025-268160"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-268160","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]}}}