{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T17:02:24Z","timestamp":1783011744251,"version":"3.54.6"},"reference-count":18,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,6,11]],"date-time":"2024-06-11T00:00:00Z","timestamp":1718064000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>Bardet-Biedl syndrome (BBS) is a rare genetic disorder characterized by retinitis pigmentosa, polydactyly, type 2 diabetes mellitus, and obesity. This case report presents a 19-year-old male from Palestine with BBS, exhibiting delayed diagnosis and variable phenotypic expression. The patient had familial BBS history and presented with obesity, type 2 diabetes mellitus, retinitis pigmentosa, and cryptorchidism. Genetic analysis identified heterozygous missense variants in the <jats:italic>FBN3<\/jats:italic> gene, yet additional genetic factors may contribute to the phenotype. Renal abnormalities included kidney shrinkage and mild hydronephrosis. Management of this patient involves a multidisciplinary approach with lifestyle modifications, surgical interventions, and supportive care. Early diagnosis, genetic counseling, and regular follow-up are crucial for improving outcomes in BBS. This report highlights diagnostic and therapeutic challenges and underscores the need for further research on this complex disorder.<\/jats:p>","DOI":"10.3389\/fped.2024.1420684","type":"journal-article","created":{"date-parts":[[2024,6,12]],"date-time":"2024-06-12T13:17:25Z","timestamp":1718198245000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Bardet-Biedl syndrome in a 19-year-old male: the first case report from Palestine"],"prefix":"10.3389","volume":"12","author":[{"given":"Hamza B.","family":"Karmi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yahya","family":"Abu Jwaid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Hakam","family":"Shehadeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dareen","family":"Njoom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aya","family":"Awwad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hasan","family":"Eideh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,6,11]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","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) thesis, for the degree of doctor of medicine","volume":"3","author":"Bardet","year":"1995","journal-title":"Obes Res"},{"key":"B2","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1002\/j.1550-8528.1995.tb00167.x","article-title":"A pair of siblings with adiposo-genital dystrophy","volume":"3","author":"Biedl","year":"1995","journal-title":"Obes Res"},{"key":"B3","doi-asserted-by":"publisher","first-page":"158","DOI":"10.3126\/ajms.v12i8.38262","article-title":"Bardet-Biedl syndrome: a case report from Nepal","volume":"12","author":"Mandal","year":"2021","journal-title":"Asian J Med Sci"},{"key":"B4","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1038\/ejhg.2012.115","article-title":"Bardet-Biedl syndrome","volume":"21","author":"Forsythe","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"B5","doi-asserted-by":"publisher","first-page":"2256","DOI":"10.1126\/science.1063525","article-title":"Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder","volume":"293","author":"Katsanis","year":"2001","journal-title":"Science"},{"key":"B6","doi-asserted-by":"publisher","first-page":"11795476231193896","DOI":"10.1177\/11795476231193896","article-title":"Megaloblastic anemia in Bardet-Biedl syndrome: a rare case report","volume":"16","author":"Hassan","year":"2023","journal-title":"Clin Med Insights Case Rep"},{"key":"B7","doi-asserted-by":"publisher","first-page":"360","DOI":"10.5935\/0034-7280.20180079","article-title":"Bardet-Biedl syndrome: case series and literature revision","volume":"77","author":"Toledo","year":"2018","journal-title":"Rev Bras Oftalmol"},{"key":"B8","doi-asserted-by":"publisher","first-page":"bcr2015211776","DOI":"10.1136\/bcr-2015-211776","article-title":"Bardet-Biedl syndrome: multiple fingers with multiple defects!","volume":"2015","author":"Madireddi","year":"2015","journal-title":"BMJ Case Rep"},{"key":"B9","doi-asserted-by":"publisher","first-page":"226","DOI":"10.1016\/j.ijsu.2020.10.034","article-title":"The CARE 2020 guideline: updating consensus surgical case report (CARE) guidelines","volume":"84","author":"Agha","year":"2020","journal-title":"Int J Surg"},{"key":"B10","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1186\/s13256-022-03396-6","article-title":"Bardet-Biedl syndrome: a case series","volume":"16","author":"Elawad","year":"2022","journal-title":"J Med Case Rep"},{"key":"B11","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1007\/s12687-011-0040-6","article-title":"Prevalence of Bardet-Biedl syndrome in Tunisia","volume":"2","author":"M\u2019hamdi","year":"2011","journal-title":"J Community Genet"},{"key":"B12","doi-asserted-by":"publisher","first-page":"077","DOI":"10.3233\/PGE-13051","article-title":"Bardet-Biedl syndrome: a rare genetic disease","volume":"2","author":"Valverde","year":"2015","journal-title":"J PediatrGenet"},{"key":"B13","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1155\/2023\/4017010","article-title":"Bangladeshi case series of Bardet-Biedl syndrome","volume":"2023","author":"Osman","year":"2023","journal-title":"Case Rep Ophthalmol Med"},{"key":"B14","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1136\/jmg.36.6.437","article-title":"Original articles 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":"B15","doi-asserted-by":"publisher","first-page":"214","DOI":"10.1007\/s12291-011-0116-4","article-title":"End stage renal disease, differential diagnosis, a rare genetic disorder: Bardet-Biedl syndrome: case report and review","volume":"26","author":"Sowjanya","year":"2011","journal-title":"Indian J Clin Biochem"},{"key":"B16","doi-asserted-by":"publisher","first-page":"CS12","DOI":"10.12659\/MSM.881320","article-title":"Obesity control and low protein diet preserve or even improve renal functions in Bardet-Biedl syndrome: a report of two cases","volume":"17","author":"Dervisoglu","year":"2011","journal-title":"Med Sci Monit"},{"key":"B17","doi-asserted-by":"publisher","first-page":"943","DOI":"10.1038\/s41431-020-0594-z","article-title":"Second case of Bardet-Biedl syndrome caused by biallelic variants in IFT74","volume":"28","author":"Kleinendorst","year":"2020","journal-title":"Eur J Hum Genet"},{"key":"B18","doi-asserted-by":"publisher","first-page":"924362","DOI":"10.3389\/fgene.2022.924362","article-title":"Case report: a novel homozygous missense variant of FBN3 supporting it is a new candidate gene causative of a Bardet-Biedl syndrome\u2013like phenotype","volume":"13","author":"Genovesi","year":"2022","journal-title":"Front Genet"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2024.1420684\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,12]],"date-time":"2024-06-12T13:17:28Z","timestamp":1718198248000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2024.1420684\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,11]]},"references-count":18,"alternative-id":["10.3389\/fped.2024.1420684"],"URL":"https:\/\/doi.org\/10.3389\/fped.2024.1420684","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,11]]},"article-number":"1420684"}}