{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T16:13:07Z","timestamp":1791043987232,"version":"4.1.0"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,3,14]],"date-time":"2026-03-14T00:00:00Z","timestamp":1773446400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T00:00:00Z","timestamp":1776816000000},"content-version":"vor","delay-in-days":39,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"DOI":"10.1186\/s13256-026-05917-z","type":"journal-article","created":{"date-parts":[[2026,3,14]],"date-time":"2026-03-14T04:28:00Z","timestamp":1773462480000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Bardet\u2013Biedl syndrome in two sibling pairs: a case series"],"prefix":"10.1186","volume":"20","author":[{"given":"Abdul","family":"Aziz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-2837-7990","authenticated-orcid":false,"given":"Muhammad","family":"Shahzil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anfal","family":"Arshad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad Rashid","family":"Asghar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Munzir","family":"Latif","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aimon","family":"Riaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khuram","family":"Bashir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nayyar","family":"Saleem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zubair","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,3,14]]},"reference":[{"key":"5917_CR1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.36.6.437","volume":"36","author":"PL Beales","year":"1999","unstructured":"Beales PL, Elcioglu N, Woolf AS, et al. New criteria for improved diagnosis of Bardet\u2013Biedl syndrome: results of a population survey. J Med Genet. 1999;36: 437. https:\/\/doi.org\/10.1136\/jmg.36.6.437.","journal-title":"J Med Genet"},{"issue":"2","key":"5917_CR2","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1111\/DOM.15480","volume":"26","author":"JW Tomlinson","year":"2024","unstructured":"Tomlinson JW. Bardet\u2013Biedl syndrome: a focus on genetics, mechanisms and metabolic dysfunction. Diabetes Obes Metab. 2024;26(2):13\u201324. https:\/\/doi.org\/10.1111\/DOM.15480.","journal-title":"Diabetes Obes Metab"},{"issue":"1","key":"5917_CR3","doi-asserted-by":"publisher","DOI":"10.1186\/S13023-025-03641-3","volume":"20","author":"CF Rustad","year":"2025","unstructured":"Rustad CF, Bragadottir R, Tveten K, et al. Clinical and genetic aspects of Bardet\u2013Biedl syndrome in adults in Norway. Orphanet J Rare Dis. 2025;20(1): 127. https:\/\/doi.org\/10.1186\/S13023-025-03641-3.","journal-title":"Orphanet J Rare Dis"},{"key":"5917_CR4","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1159\/000475500","volume":"3","author":"M Zacchia","year":"2017","unstructured":"Zacchia M, Di Iorio V, Trepiccione F, et al. The kidney in Bardet\u2013Biedl syndrome: possible pathogenesis of urine concentrating defect. Kidney Dis. 2017;3:57\u201365. https:\/\/doi.org\/10.1159\/000475500.","journal-title":"Kidney Dis"},{"key":"5917_CR5","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1016\/B978-0-12-816222-4.00008-3","volume-title":"Genetics and genomics of eye disease: advancing to precision medicine","author":"R Forsyth","year":"2023","unstructured":"Forsyth R, Gunay-Aygun M. Bardet\u2013Biedl syndrome overview. In: Gao XR, editor. Genetics and genomics of eye disease: advancing to precision medicine. Amsterdam: Academic Press; 2023. p. 117\u201336. https:\/\/doi.org\/10.1016\/B978-0-12-816222-4.00008-3."},{"key":"5917_CR6","doi-asserted-by":"publisher","DOI":"10.6061\/CLINICS\/2012(02)09","volume":"67","author":"A Berezovsky","year":"2012","unstructured":"Berezovsky A, Rocha DM, Sacai PY, et al. Visual acuity and retinal function in patients with Bardet\u2013Biedl syndrome. Clinics. 2012;67: 145. https:\/\/doi.org\/10.6061\/CLINICS\/2012(02)09.","journal-title":"Clinics"},{"key":"5917_CR7","doi-asserted-by":"publisher","DOI":"10.1111\/CGE.14119","volume":"101","author":"JR Meyer","year":"2022","unstructured":"Meyer JR, Krentz AD, Berg RL, et al. Kidney failure in Bardet\u2013Biedl syndrome. Clin Genet. 2022;101: 429. https:\/\/doi.org\/10.1111\/CGE.14119.","journal-title":"Clin Genet"},{"key":"5917_CR8","doi-asserted-by":"publisher","DOI":"10.1038\/S41431-024-01634-7","volume":"32","author":"H Dollfus","year":"2024","unstructured":"Dollfus H, Lilien MR, Maffei P, et al. Bardet\u2013Biedl syndrome improved diagnosis criteria and management: inter European Reference Networks consensus statement and recommendations. Eur J Hum Genet. 2024;32: 1347. https:\/\/doi.org\/10.1038\/S41431-024-01634-7.","journal-title":"Eur J Hum Genet"},{"key":"5917_CR9","doi-asserted-by":"publisher","DOI":"10.1530\/EDM-23-0055","author":"N Van Roy","year":"2023","unstructured":"Van Roy N, Heerwegh S, Husein D, et al. A diagnostic conundrum in Bardet\u2013Biedl syndrome: when genetic diagnosis precedes clinical diagnosis. Endocrinol Diabetes Metab Case Rep. 2023. https:\/\/doi.org\/10.1530\/EDM-23-0055.","journal-title":"Endocrinol Diabetes Metab Case Rep"},{"key":"5917_CR10","doi-asserted-by":"publisher","DOI":"10.1159\/000445491","volume":"7","author":"EN Suspitsin","year":"2016","unstructured":"Suspitsin EN, Imyanitov EN. Bardet\u2013Biedl syndrome. Mol Syndromol. 2016;7: 62. https:\/\/doi.org\/10.1159\/000445491.","journal-title":"Mol Syndromol"},{"key":"5917_CR11","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1038\/EJHG.2012.115","volume":"21","author":"E Forsythe","year":"2013","unstructured":"Forsythe E, Beales PL. Bardet\u2013Biedl syndrome. Eur J Hum Genet. 2013;21:8\u201313. https:\/\/doi.org\/10.1038\/EJHG.2012.115.","journal-title":"Eur J Hum Genet"},{"key":"5917_CR12","doi-asserted-by":"publisher","first-page":"1226595","DOI":"10.3389\/FPED.2023.1226595\/BIBTEX","volume":"11","author":"A Simi\u010di\u0107 Majce","year":"2023","unstructured":"Simi\u010di\u0107 Majce A, Tudor D, Simunovic M, et al. Bardet\u2013Biedl syndrome caused by compound heterozygosity in BBS12 gene: a case report of one family with three affected members. Front Pediatr. 2023;11:1226595. https:\/\/doi.org\/10.3389\/FPED.2023.1226595\/BIBTEX.","journal-title":"Front Pediatr"},{"key":"5917_CR13","doi-asserted-by":"publisher","first-page":"1420684","DOI":"10.3389\/FPED.2024.1420684\/BIBTEX","volume":"12","author":"HB Karmi","year":"2024","unstructured":"Karmi HB, Abu Jwaid Y, Shehadeh MH, et al. Bardet\u2013Biedl syndrome in a 19-year-old male: the first case report from Palestine. Front Pediatr. 2024;12:1420684. https:\/\/doi.org\/10.3389\/FPED.2024.1420684\/BIBTEX.","journal-title":"Front Pediatr"},{"key":"5917_CR14","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1016\/j.aace.2024.12.006","volume":"11","author":"D Ahmad Mian","year":"2025","unstructured":"Ahmad Mian D, Shah ZA, Ikram MT, et al. A beacon of hope: confronting Bardet\u2013Biedl syndrome in Pakistan\u2019s health care frontier. AACE Clin Case Rep. 2025;11:121\u20135. https:\/\/doi.org\/10.1016\/j.aace.2024.12.006.","journal-title":"AACE Clin Case Rep"},{"key":"5917_CR15","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/S13256-022-03396-6\/FIGURES\/4","volume":"16","author":"OAMA Elawad","year":"2022","unstructured":"Elawad OAMA, Dafallah MA, Ahmed MMM, et al. Bardet\u2013Biedl syndrome: a case series. J Med Case Rep. 2022;16:1\u20139. https:\/\/doi.org\/10.1186\/S13256-022-03396-6\/FIGURES\/4.","journal-title":"J Med Case Rep"},{"issue":"1","key":"5917_CR16","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/S43054-023-00196-5","volume":"71","author":"E Pediatric","year":"2023","unstructured":"Pediatric E, Rekhawar GR, Bhavana MP, et al. Bardet\u2013Biedl syndrome: a case report of delayed diagnosis with variable presentation and role of genetic testing in definitive diagnosis. Egypt Pediatr Assoc Gaz. 2023;71(1):1\u20136. https:\/\/doi.org\/10.1186\/S43054-023-00196-5.","journal-title":"Egypt Pediatr Assoc Gaz"},{"key":"5917_CR17","doi-asserted-by":"publisher","first-page":"1218","DOI":"10.3390\/GENES13071218\/S1","volume":"13","author":"F Nasser","year":"2022","unstructured":"Nasser F, Kohl S, Kurtenbach A, et al. Ophthalmic and genetic features of Bardet Biedl syndrome in a German cohort. Genes (Basel). 2022;13:1218. https:\/\/doi.org\/10.3390\/GENES13071218\/S1.","journal-title":"Genes (Basel)"},{"issue":"1","key":"5917_CR18","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1186\/S13023-024-03400-W","volume":"19","author":"M Cetiner","year":"2024","unstructured":"Cetiner M, Finkelberg I, Schiepek F, et al. Ultrasound evaluation of kidney and liver involvement in Bardet\u2013Biedl syndrome. Orphanet J Rare Dis. 2024;19(1):425. https:\/\/doi.org\/10.1186\/S13023-024-03400-W.","journal-title":"Orphanet J Rare Dis"},{"key":"5917_CR19","doi-asserted-by":"publisher","first-page":"186","DOI":"10.24953\/TURKJPED.2019.02.006","volume":"61","author":"B Atm\u0131\u015f","year":"2019","unstructured":"Atm\u0131\u015f B, Karabay-Bayaz\u0131t A, Melek E, et al. Renal features of Bardet Biedl syndrome: a single center experience. Turk J Pediatr. 2019;61:186\u201392. https:\/\/doi.org\/10.24953\/TURKJPED.2019.02.006.","journal-title":"Turk J Pediatr"},{"key":"5917_CR20","doi-asserted-by":"publisher","first-page":"2153","DOI":"10.2147\/JMDH.S274739","volume":"15","author":"L Caba","year":"2022","unstructured":"Caba L, Florea L, Braha EE, et al. Monitoring and management of Bardet\u2013Biedl syndrome: what the multi-disciplinary team can do. J Multidiscip Healthc. 2022;15:2153\u201367. https:\/\/doi.org\/10.2147\/JMDH.S274739.","journal-title":"J Multidiscip Healthc"},{"key":"5917_CR21","doi-asserted-by":"publisher","DOI":"10.1210\/CLINEM\/DGAA551","author":"K Isabelle","year":"2020","unstructured":"Isabelle K, Manuel M, Nadia M, et al. Reproduction function in male patients with Bardet Biedl syndrome. J Clin Endocrinol Metab. 2020. https:\/\/doi.org\/10.1210\/CLINEM\/DGAA551.","journal-title":"J Clin Endocrinol Metab"},{"key":"5917_CR22","doi-asserted-by":"publisher","DOI":"10.1371\/JOURNAL.PBIO.3000414","volume":"17","author":"N Haq","year":"2019","unstructured":"Haq N, Schmidt-Hieber C, Sialana FJ, et al. Loss of Bardet\u2013Biedl syndrome proteins causes synaptic aberrations in principal neurons. PLoS Biol. 2019;17: e3000414. https:\/\/doi.org\/10.1371\/JOURNAL.PBIO.3000414.","journal-title":"PLoS Biol"},{"key":"5917_CR23","doi-asserted-by":"publisher","DOI":"10.1172\/JCI146287","author":"L Wang","year":"2021","unstructured":"Wang L, Liu Y, Stratigopoulos G, et al. Bardet\u2013Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons. J Clin Invest. 2021. https:\/\/doi.org\/10.1172\/JCI146287.","journal-title":"J Clin Invest"},{"key":"5917_CR24","doi-asserted-by":"publisher","first-page":"1403","DOI":"10.1016\/j.ekir.2020.06.017","volume":"5","author":"E Marchese","year":"2020","unstructured":"Marchese E, Ruoppolo M, Perna A, et al. Exploring key challenges of understanding the pathogenesis of kidney disease in Bardet\u2013Biedl syndrome. Kidney Int Rep. 2020;5:1403\u201315. https:\/\/doi.org\/10.1016\/j.ekir.2020.06.017.","journal-title":"Kidney Int Rep"},{"key":"5917_CR25","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1186\/S12881-019-0886-8\/TABLES\/2","volume":"20","author":"RK Niazi","year":"2019","unstructured":"Niazi RK, Gjesing AP, Hollensted M, et al. Screening of 31 genes involved in monogenic forms of obesity in 23 Pakistani probands with early-onset childhood obesity: a case report. BMC Med Genet. 2019;20:152. https:\/\/doi.org\/10.1186\/S12881-019-0886-8\/TABLES\/2.","journal-title":"BMC Med Genet"},{"key":"5917_CR26","doi-asserted-by":"publisher","DOI":"10.1016\/J.RARE.2025.100092","volume":"3","author":"LN Campos","year":"2025","unstructured":"Campos LN, Rudzinski IV, Pintos GO, et al. Screening, diagnostic, and monitoring approaches of Bardet\u2013Biedl syndrome: a scoping review. Rare. 2025;3: 100092. https:\/\/doi.org\/10.1016\/J.RARE.2025.100092.","journal-title":"Rare"},{"key":"5917_CR27","doi-asserted-by":"publisher","DOI":"10.1371\/JOURNAL.PONE.0136317","volume":"10","author":"M Hirano","year":"2015","unstructured":"Hirano M, Satake W, Ihara K, et al. The first nationwide survey and genetic analyses of Bardet\u2013Biedl syndrome in Japan. PLoS ONE. 2015;10: e0136317. https:\/\/doi.org\/10.1371\/JOURNAL.PONE.0136317.","journal-title":"PLoS ONE"},{"key":"5917_CR28","doi-asserted-by":"publisher","first-page":"177","DOI":"10.4103\/IJMR.IJMR_1822_15","volume":"147","author":"SP Chandrasekar","year":"2018","unstructured":"Chandrasekar SP, Namboothiri S, Sen P, Sarangapani S. Screening for mutation hotspots in Bardet\u2013Biedl syndrome patients from India. Indian J Med Res. 2018;147:177\u201382. https:\/\/doi.org\/10.4103\/IJMR.IJMR_1822_15.","journal-title":"Indian J Med Res"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13256-026-05917-z","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-026-05917-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-026-05917-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T01:00:53Z","timestamp":1776819653000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s13256-026-05917-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,14]]},"references-count":28,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["5917"],"URL":"https:\/\/doi.org\/10.1186\/s13256-026-05917-z","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,14]]},"assertion":[{"value":"18 September 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 January 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 March 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent for clinical description and de-identified images or data was obtained from the patients or legal guardians, in line with local policy. Where minors were involved, guardian consent was secured. The guardians of the affected children expressed relief in receiving a unifying diagnosis that explained their children\u2019s diverse symptoms. They valued the counseling provided regarding prognosis, genetic implications, and preventive strategies for avoidable complications. Families highlighted concerns about progressive vision loss and kidney involvement, emphasizing the importance of continued medical support and access to specialized care.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patients and\/or patients\u2019 legal guardians for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"212"}}