Bardet-Biedl syndrome presenting with laryngeal web and bifid epiglottis. Issue 1 (28th January 2021)

• Record Type: Journal Article
• Authors: Kaur, Parminder; Chaudhry, Chakshu; Neelam, Harsha; Panigrahi, Inusha
• Is Part Of: BMJ case reports. Volume 14:Issue 1(2021)
• Publication Date: 2021-01-28
• Subjects: genetics -- ear -- nose and throat/otolaryngology -- paediatrics; Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2020-236325
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : 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.