title: The otolaryngologic manifestations of Pelizaeus-Merzbacher disease.
abstract: Pelizaeus-Merzbacher disease is a condition of central nervous system dysmyelination. We describe a familial series in which both otologic and laryngologic abnormalities were present. The diagnosis of this invariably fatal disorder can be made on a clinical and/or pathologic basis. As the otolaryngologic manifestations are often the first to appear, the consulting head and neck surgeon may be essential in the initial diagnosis of this hereditary disease.
authors.affiliation: Department of Surgery, University of California, San Diego.
authors.forename: J I
authors.initials: JI
authors.lastname: Feldman
authors.forename: D B
authors.initials: DB
authors.lastname: Kearns
authors.forename: A B
authors.initials: AB
authors.lastname: Seid
authors.forename: S M
authors.initials: SM
authors.lastname: Pransky
authors.forename: M C
authors.initials: MC
authors.lastname: Jones
mesh_terms: D001300:Audiometry, Evoked Response; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D004427:Ear Diseases / Q000235:genetics*; D005072:Evoked Potentials, Auditory; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D007818:Laryngeal Diseases / Q000235:genetics*; D008297:Male; D009759:Nystagmus, Pathologic / Q000235:genetics; D010375:Pedigree; D012135:Respiratory Sounds / Q000235:genetics; D014960:X Chromosome