{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T11:08:35Z","timestamp":1790680115993,"version":"4.1.0"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,4,29]],"date-time":"2022-04-29T00:00:00Z","timestamp":1651190400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,4,29]],"date-time":"2022-04-29T00:00:00Z","timestamp":1651190400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Bardet\u2013Biedl syndrome is a rare multisystem autosomal recessive disorder that falls under the spectrum of ciliopathy disorders. It is characterized by rod\u2013cone dystrophy, renal malformations, polydactyly, learning difficulties, central obesity, and hypogonadism. Many minor features that are related with Bardet\u2013Biedl syndrome might aid in diagnosis and are crucial in clinical management. Bardet\u2013Biedl syndrome is diagnosed on the basis of clinical signs and symptoms, which can be confirmed by genetic testing. Here we present four cases of Bardet\u2013Biedl syndrome. To our knowledge, these are the first cases of Bardet\u2013Biedl syndrome reported from Sudan.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation<\/jats:title><jats:p>Here, we report four Sudanese patients who presented with a variety of clinical manifestations of Bardet\u2013Biedl syndrome (two males, 50 and 16\u00a0years old; two females, 38 and 18\u00a0years old). The first two patients presented with features of chronic kidney disease. The third patient had recently been diagnosed with type 1 diabetes and diabetic ketoacidosis. The fourth patient showed signs of retinal dystrophy early on. Case 1: a 38-year-old female presented with vomiting and irritability; the patient was diagnosed with Bardet\u2013Biedl syndrome as she fulfilled six items of the primary features (obesity, retinitis pigmentosa, post-axial polydactyly, renal abnormalities, learning disabilities, and genitourinary malformations), as well as one secondary feature (cardiovascular involvement, that is, left ventricular hypertrophy). Case 2: a 50-year-old male presented with fatigability; the patient was diagnosed with Bardet\u2013Biedl syndrome as he fulfilled four items of the primary features (obesity, retinitis pigmentosa, post-axial polydactyly, and renal abnormalities) in addition to two secondary features (diabetes mellitus and cardiovascular involvement, that is, left ventricular hypertrophy). Case 3: an 18-year-old female presented with polyuria, polydipsia, weight loss, and epigastric pain for 2\u00a0days; the patient was diagnosed with Bardet\u2013Biedl syndrome because he had four major features (retinal dystrophy, post-axial polydactyly, obesity, and learning disabilities) in addition to three secondary features (developmental delay, diabetes mellitus, and strabismus). Case 4: a 16-year-old male presented with a blurring of vision; the patient was diagnosed with Bardet\u2013Biedl syndrome as he exhibited four major features (retinal dystrophy, post-axial polydactyly, obesity, and learning disabilities) plus two secondary features (developmental delay and cataract).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The scarcity of Bardet\u2013Biedl syndrome necessitates a high index of suspicion to diagnose this syndrome. Increased awareness among physicians is required for the early diagnosis and treatment of Bardet\u2013Biedl syndrome and to avoid complications and mortality.<\/jats:p><\/jats:sec>","DOI":"10.1186\/s13256-022-03396-6","type":"journal-article","created":{"date-parts":[[2022,4,28]],"date-time":"2022-04-28T23:05:13Z","timestamp":1651187113000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Bardet\u2013Biedl syndrome: a case series"],"prefix":"10.1186","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1714-951X","authenticated-orcid":false,"given":"Omer Ali Mohamed Ahmed","family":"Elawad","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mumen Abdalazim","family":"Dafallah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed Mahgoub Mirghani","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed Abdalazim Dafallah","family":"Albashir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sahar Mohammed Abbas","family":"Abdalla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Habiballa Hago Mohamed","family":"Yousif","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anwar Ali Elamin","family":"Daw Elbait","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moawia Elbalal","family":"Mohammed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hassan Ismail Hassan","family":"Ali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed Mutasim Mohamed","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Najla Fouad Nassir","family":"Mohammed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fadwa Hashim Mohamed","family":"Osman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mussab Alnazeer Yousif","family":"Mohammed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ejlal Ahmed Ebrahim","family":"Abu Shama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,4,29]]},"reference":[{"key":"3396_CR1","doi-asserted-by":"publisher","first-page":"628","DOI":"10.1038\/nature02030","volume":"425","author":"SJ Ansley","year":"2003","unstructured":"Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N. Basal body dysfunction is an expected cause of pleiotropic Bardet\u2013Biedl syndrome. Nature. 2003;425:628\u201333. https:\/\/doi.org\/10.1038\/nature02030.","journal-title":"Nature"},{"key":"3396_CR2","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1136\/jmg.2007.054999","volume":"45","author":"M Adams","year":"2008","unstructured":"Adams M, Smith UM, Logan CV, Johnson CA. Recent advances in the molecular pathology, cell biology and genetics of ciliopathies. J Med Genet. 2008;45:257\u201367. https:\/\/doi.org\/10.1136\/jmg.2007.054999.","journal-title":"J Med Genet"},{"key":"3396_CR3","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1136\/jmg.36.6.437","volume":"36","author":"PL Beales","year":"1999","unstructured":"Beales PL, Elcioglu N. New criteria for improved diagnosis of Bardet\u2013Biedl syndrome: results of a population survey. J Med Genet. 1999;36:437\u201346.","journal-title":"J Med Genet"},{"key":"3396_CR4","first-page":"407","volume":"470","author":"G Bardet","year":"1920","unstructured":"Bardet G. Sur un syndrome d\u2019obesitecongenitale avec Polydactilieetretinitepigmentaire (contribution a l\u2019etude des formescliniquesdel\u2019obesitehypophysaire) [On congental obesity syndrome with poly-dactyly and pigmentary retinitis (contributions to the study of clinical forms of pituitary obesity)]. Amedee Le Grand. 1920;470:407.","journal-title":"Amedee Le Grand"},{"key":"3396_CR5","first-page":"1630","volume":"48","author":"A Biedl","year":"1922","unstructured":"Biedl A. Ein Geschwisterpaar mit adiposo-genitaler Dystrophie [A pair of siblings with adiposogenital dystrophy]. 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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 there is no competing interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"169"}}