{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T06:10:21Z","timestamp":1756275021182,"version":"3.44.0"},"reference-count":11,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,12,14]]},"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:p>Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by rod-cone dystrophy, obesity, postaxial polydactyly, cognitive impairment, hypogonadism, renal abnormalities, and rarely, laryngeal webs or bifid epiglottis. Most patients present with obesity. Multiple genes are involved in causation of BBS and there is also evidence of triallelic inheritance. We herein report an Asian boy who had weak cry and stridor since birth, and on evaluation was found to have both laryngeal web and bifid epiglottis. Mutation analysis revealed a homozygous variant in BBS10 gene.<\/jats:p>","DOI":"10.1136\/bcr-2020-236325","type":"journal-article","created":{"date-parts":[[2021,1,28]],"date-time":"2021-01-28T13:01:08Z","timestamp":1611838868000},"page":"e236325","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Bardet-Biedl syndrome presenting with laryngeal web and bifid epiglottis"],"prefix":"10.1136","volume":"14","author":[{"given":"Parminder","family":"Kaur","sequence":"first","affiliation":[{"name":"Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0080-2172","authenticated-orcid":false,"given":"Chakshu","family":"Chaudhry","sequence":"additional","affiliation":[{"name":"Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harsha","family":"Neelam","sequence":"additional","affiliation":[{"name":"Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7375-9892","authenticated-orcid":false,"given":"Inusha","family":"Panigrahi","sequence":"additional","affiliation":[{"name":"Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,1,28]]},"reference":[{"key":"2025082622414626000_14.1.e236325.1","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1136\/jmg.36.6.437","article-title":"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":"2025082622414626000_14.1.e236325.2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23862"},{"key":"2025082622414626000_14.1.e236325.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.10.011"},{"key":"2025082622414626000_14.1.e236325.4","doi-asserted-by":"publisher","DOI":"10.1053\/hn.1999.v120.a83517"},{"key":"2025082622414626000_14.1.e236325.5","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.amjoto.2015.11.001","article-title":"Type IV congenital laryngeal web: case report and 15 year follow up","volume":"37","author":"Sorichetti","year":"2016","journal-title":"Am J Otolaryngol"},{"key":"2025082622414626000_14.1.e236325.6","first-page":"956","article-title":"Use of intralesional cidofovir in the recurrent respiratory papillomatosis: a review of the literature","volume":"24","author":"Gazia","year":"2020","journal-title":"Eur Rev Med Pharmacol Sci"},{"key":"2025082622414626000_14.1.e236325.7","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1111\/j.1442-200X.2010.03096.x","article-title":"Bifid epiglottis: syndromic constituent rather than isolated anomaly","volume":"52","author":"Tsurumi","year":"2010","journal-title":"Pediatr Int"},{"key":"2025082622414626000_14.1.e236325.8","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1080\/22201181.2017.1379719","article-title":"Bardet\u2013Biedl syndrome: expect the unexpected suspect the unsuspected","volume":"23:5","author":"Cronj\u00e9","year":"2017","journal-title":"Southern African J Anaesthesia Analgesia"},{"key":"2025082622414626000_14.1.e236325.9","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.pedex.2015.10.001","article-title":"Bifid epiglottis as a cause of recurrent pneumonia in a patient with Bardet-Biedl syndrome, a ciliopathy","volume":"10","author":"Copenhaver","year":"2015","journal-title":"Int J Pediatr Otorhinolaryngol Extra"},{"key":"2025082622414626000_14.1.e236325.10","first-page":"61","article-title":"Nose and throat manifestations in Laurence-Moon-Biedl-Bardet syndrome, Indian J","volume":"49","author":"Ear","year":"1997","journal-title":"Otolaryngol. 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