{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:27:45Z","timestamp":1786649265756,"version":"build-2736575974"},"reference-count":28,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction:<\/jats:title>\n                    <jats:p>Bardet\u2013Biedl syndrome (BBS-OMIM 209900) is a rare genetic multi-system obesity syndrome with limited case reports from India. We describe a case series of BBS with varied clinical presentation and their co-morbidities.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>\n                      BBS was diagnosed based on the clinical criteria by Beales\n                      <jats:italic toggle=\"yes\">et al<\/jats:italic>\n                      . Their clinical presentations including the presence of primary and secondary features, metabolic profile, and systemic complications were examined.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>Eleven cases of BBS were analyzed over 9 years, of which the most common primary clinical manifestations were post-axial polydactyly and learning disabilities, noted in all individuals (100%). Retinitis pigmentosa and truncal obesity were present in 91% (10 out of 11). Clinical and biochemical features of hypogonadism and genital abnormalities were observed in 73% of individuals. Craniofacial dysmorphism and developmental delay were the more commonly observed secondary features, observed in 91%. Speech delay and brachydactyly\/syndactyly were present in 73% of cases. Hyperactive behavioural disturbances and diabetes mellitus were noted in 45% and 18% of cases, respectively. Cataracts, hypertonia, dental malocclusion and cardiac anomalies (dextrocardia) were each observed in just one patient among the study population of 11 patients. The molecular genetics were analysed in two individuals.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>BBS is an extremely rare clinical syndrome with clinical heterogeneity at presentation. The appropriate diagnosis of syndromic obesity and an early multi-disciplinary intervention may improve their quality of life.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/ijem.ijem_278_24","type":"journal-article","created":{"date-parts":[[2025,2,28]],"date-time":"2025-02-28T09:05:10Z","timestamp":1740733510000},"page":"89-94","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["Clinical Presentation and Co-Morbidities in Bardet-Biedel Syndrome: Case Series from a Single Centre"],"prefix":"10.4103","volume":"29","author":[{"given":"Subbiah","family":"Sridhar","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Madurai Medical College and Goverment Rajaji Hospital, Madurai, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sengottaiyan","family":"Palanivel","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Madurai Medical 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