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.
SuzukiTHakozakiMKuboNKurodaKOgawaA. A case of cranial meningocele associated with Joubert syndrome. Childs Nerv Syst1996; 12: 280–2.
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VerloesADavidANgoLBottaniA. Stringent delineation of Pallister-Hall syndrome in two long surviving patients: Importance of radiological anomalies of the hands. J Med Genet1995; 32: 605–11.
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SquiresLAConstantiniSMillerDCWisoffJH. Hypothalamic hamartoma and the Pallister-Hall syndrome. Pediatr Neurosurg1995; 22: 303–8.
