{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T03:54:30Z","timestamp":1777694070895,"version":"3.51.4"},"reference-count":11,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Clin Med Insights Case Rep"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Bardet-Biedl syndrome (BBS) also known as Laurence-Moon-Bardet-Biedl syndrome one of the rarely reported genetic disorder characterized by an intellectual disability, limb, kidney abnormalities, obesity, and Rod-cone dystrophy. Other associated condition includes diabetes mellitus, hypertension, hypogonadism, facial dysmorphism, and congenital heart defects. This case highlights megaloblastic anemia associated with BBS.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation:<\/jats:title>\n                    <jats:p>A 16-year-old female patient who had a moon face, truncal obesity, polydactyly, low IQ, and visual impairment presented with the complaint of shortness of breath and easy fatiguability. She had bilateral retinal pigmentosa in her eyes and her laboratory evaluation and bone marrow biopsy revealed megaloblastic anemia secondary to vitamin B12 deficiency. She received injectable vitamin B12, folate, and red cell contrate transfusion. Her symptoms improved and she was discharged with oral medication.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>Megaloblastic anemia in BBS is rarely reported, further research is needed to find the exact cause that is necessary for proper management and better outcome.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/11795476231193896","type":"journal-article","created":{"date-parts":[[2023,8,14]],"date-time":"2023-08-14T05:51:50Z","timestamp":1691992310000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Megaloblastic Anemia in Bardet-Biedl Syndrome: A Rare Case Report"],"prefix":"10.1177","volume":"16","author":[{"given":"Subtain","family":"Hassan","sequence":"first","affiliation":[{"name":"Khyber Teaching Hospital MTI KTH, Peshawar, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qaisar Ali","family":"Khan","sequence":"additional","affiliation":[{"name":"Khyber Teaching Hospital MTI KTH, Peshawar, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Priyadharshini","family":"Saravanan","sequence":"additional","affiliation":[{"name":"Pondicherry Institute of Medical Sciences, Pondicherry, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sumaira","family":"Iram","sequence":"additional","affiliation":[{"name":"Sultan Qaboos Medical University, Muscat, Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samia","family":"Rohail","sequence":"additional","affiliation":[{"name":"Karachi Medical and Dental College, Karachi, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8467-8980","authenticated-orcid":false,"given":"Naod F","family":"Belay","sequence":"additional","affiliation":[{"name":"Michigan State University, East Lansing, MI, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Afzal","sequence":"additional","affiliation":[{"name":"St.George\u2019s University, True blue, Grenada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faiza Amatul","family":"Hadi","sequence":"additional","affiliation":[{"name":"Mercer School of Medicine, Macon, GA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harshawardhan","family":"Pande","sequence":"additional","affiliation":[{"name":"Saint Louis University, St.Louis, MO, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2023,8,14]]},"reference":[{"key":"bibr1-11795476231193896","volume":"11","author":"Khan BA","year":"2019","journal-title":"Cureus"},{"key":"bibr2-11795476231193896","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.28"},{"key":"bibr3-11795476231193896","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.20.2293"},{"key":"bibr4-11795476231193896","doi-asserted-by":"publisher","DOI":"10.4103\/0301-4738.194328"},{"key":"bibr5-11795476231193896","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.115"},{"key":"bibr6-11795476231193896","doi-asserted-by":"publisher","DOI":"10.3126\/ajms.v12i8.38262"},{"key":"bibr7-11795476231193896","doi-asserted-by":"publisher","DOI":"10.3390\/genes14020404"},{"issue":"11","key":"bibr8-11795476231193896","volume":"12","author":"Kumar A","year":"2020","journal-title":"Cureus"},{"key":"bibr9-11795476231193896","first-page":"178","volume":"3","author":"Latif H","year":"2021","journal-title":"J Akhtar Saeed Med Dent Coll"},{"key":"bibr10-11795476231193896","unstructured":"Forsyth RL, Gunay-Aygun M. Bardet-Biedl Syndrome overview. In:Adam MP, Mirzaa GM, Pagon RA, et al., eds. GeneReviews\n                      \u00ae\n                      . University of Washington; July 14, 2003; Updated March 23, 2023:1363. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1363\/"},{"key":"bibr11-11795476231193896","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.4114"}],"container-title":["Clinical Medicine Insights: Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11795476231193896","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/11795476231193896","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11795476231193896","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T09:14:24Z","timestamp":1777454064000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/11795476231193896"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1]]},"references-count":11,"alternative-id":["10.1177\/11795476231193896"],"URL":"https:\/\/doi.org\/10.1177\/11795476231193896","relation":{},"ISSN":["1179-5476","1179-5476"],"issn-type":[{"value":"1179-5476","type":"print"},{"value":"1179-5476","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1]]},"article-number":"11795476231193896"}}