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Bardet-Biedl syndrome presenting with laryngeal web and bifid epiglottis
  1. Parminder Kaur,
  2. Chakshu Chaudhry,
  3. Harsha Neelam and
  4. Inusha Panigrahi
  1. Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India
  1. Correspondence to Dr Inusha Panigrahi; inupan{at}yahoo.com

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.

  • genetics
  • ear
  • nose and throat/otolaryngology
  • paediatrics

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Footnotes

  • Contributors PK: writing of the manuscript. CC and HN: patient care and management. IP: inpatient diagnosis and care and motivation for writing the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Parental/guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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