Bardet-Biedl syndrome presenting with laryngeal web and bifid epiglottis.
Parminder KaurChakshu ChaudhryHarsha NeelamInusha PanigrahiPublished in: BMJ case reports (2021)
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.
Keyphrases
- insulin resistance
- cognitive impairment
- metabolic syndrome
- weight loss
- case report
- end stage renal disease
- type diabetes
- genome wide
- ejection fraction
- newly diagnosed
- weight gain
- high fat diet induced
- prognostic factors
- peritoneal dialysis
- genome wide identification
- mitochondrial dna
- early onset
- patient reported outcomes
- adipose tissue
- skeletal muscle
- copy number
- intellectual disability
- single cell
- patient reported
- preterm birth
- pregnancy outcomes