Association of bifid epiglottis and laryngeal web with Bardet-Biedl syndrome: A case report

Bardet-Biedl syndrome (BBS) is a rare autosomal-recessive disease characterized by rod-cone dystrophy, obesity, postaxial polydactyly, cognitive impairment, hypogonadism and renal abnormalities. Bifid epiglottis and anterior laryngeal web are rare congenital anomalies and are often constituent of po...

Full description

Saved in:
Bibliographic Details
Published in:International journal of pediatric otorhinolaryngology 2019-07, Vol.122, p.138-140
Main Authors: Poulin, Marc-Antoine, Laframboise, Rachel, Blouin, Marie-Julie
Format: Article
Language:English
Subjects:
Bardet-Biedl syndrome
Bifid epiglottis
Ciliopathy
Laryngeal web
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Bardet-Biedl syndrome (BBS) is a rare autosomal-recessive disease characterized by rod-cone dystrophy, obesity, postaxial polydactyly, cognitive impairment, hypogonadism and renal abnormalities. Bifid epiglottis and anterior laryngeal web are rare congenital anomalies and are often constituent of polymalformation syndromes. We report a case of a 9-month-old patient initially referred in otolaryngology (ENT) for dysphonia and recurrent respiratory infections. Physical exam and fiberoptic nasopharyngolaryngoscopy showed bifid epiglottis and laryngeal web associated with BBS. Those laryngeals anomalies may be underdiagnosed in BBS and this case supports the importance of upper airway evaluation by an ENT team, especially with respiratory symptoms or dysphagia.
ISSN:0165-5876
1872-8464
DOI:10.1016/j.ijporl.2019.04.019