title: Bifid epiglottis associated with Joubert's syndrome.
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.
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University College of Medicine, and the Clinical Research Institute, Seoul National University Hospital, Korea.
authors.forename: M W
authors.initials: MW
authors.lastname: Sung
authors.forename: J W
authors.initials: JW
authors.lastname: Kim
authors.forename: K H
authors.initials: KH
authors.lastname: Kim
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D001049:Apnea / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities*; D002675:Child, Preschool; D004825:Epiglottis / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007828:Laryngoscopy; D008279:Magnetic Resonance Imaging; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics*; D015835:Ocular Motility Disorders / Q000235:genetics*; D017689:Polydactyly / Q000235:genetics*; D012135:Respiratory Sounds / Q000235:genetics*; D013577:Syndrome