Bifid epiglottis associated with Joubert's syndrome

Ann Otol Rhinol Laryngol. 2001 Feb;110(2):194-6. doi: 10.1177/000348940111000217.

Abstract

This report presents the case of a 2-year-old boy who had a bifid epiglottis associated with Joubert's syndrome. He had episodic tachypnea and apnea, inspiratory stridor, aspiration, and growth and mental retardation. Direct laryngoscopy demonstrated agenesis of the right half of the epiglottis and hypertrophied mucosa over the arytenoid cartilage. After the hypertrophied mucosa was partially vaporized with a CO2 laser, the inspiratory stridor soon improved and the aspiration was alleviated. Brain magnetic resonance imaging showed cerebellar vermian agenesis and enlargement of the fourth ventricle.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Apnea / genetics*
  • Cerebellum / abnormalities*
  • Child, Preschool
  • Epiglottis / abnormalities*
  • Humans
  • Intellectual Disability / genetics*
  • Laryngoscopy
  • Magnetic Resonance Imaging
  • Male
  • Muscle Hypotonia / genetics*
  • Ocular Motility Disorders / genetics*
  • Polydactyly / genetics*
  • Respiratory Sounds / genetics*
  • Syndrome