Congenital familial subglottic stenosis: a case series and review of literature

Int J Pediatr Otorhinolaryngol. 2014 Feb;78(2):359-62. doi: 10.1016/j.ijporl.2013.10.049. Epub 2013 Nov 13.

Abstract

Subglottic stenosis is a narrowing of the endolarynx and maybe classified as congenital (primary) or acquired (secondary). Congenital stenosis maybe caused by a small cricoid cartilage, thick submucosa or other laryngeal abnormalities and remains a well-known cause of stridor in infancy. It occurs sporadically and familial occurrence is rare. Our case series identifies three children with congenital subglottic stenosis born to consanguineous parents. Congenital subglottic stenosis in siblings of unrelated parents has been previously reported, but not in consanguineous parents indicating a strong genetic link. We recommend further genetic research to assess the mode of possible heritage in this disease.

Keywords: Congenital; Familial; Stenosis; Subglottic.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child, Preschool
  • Consanguinity
  • Humans
  • Infant
  • Laryngostenosis / diagnosis*
  • Laryngostenosis / surgery
  • Larynx / abnormalities*
  • Larynx / surgery
  • Male
  • Pedigree
  • Siblings