title: A clinical, genetic and audiological study of patients and families with bilateral acoustic neurofibromatosis.
abstract: The neurofibromatoses consist of at least two distinct autosomal dominant hereditary disorders. Neurofibromatosis type 1 (NF1) is due to a lesion on chromosome 17q. Neurofibromatosis type 2 (NF2) is caused by a defect on chromosome 22q. The hallmark of NF2 is the development, in the second and third decades, of bilateral acoustic neuromas. NF1 is characterized by the appearance of café-au-lait spots and neurofibromas in addition to iris hamartomas, or Lisch nodules, of the eye, during the first and second decades. Ten families were personally studied. A total of 16 members were found to be affected with NF2. A protocol for evaluation and review of subjects and relatives of NF2 families is proposed. A team approach, coordinating the expertise of multiple specialties is recommended.
authors.affiliation: Centre for Audiology, School of Education, University of Manchester.
authors.forename: W J
authors.initials: WJ
authors.lastname: Neary
authors.forename: V E
authors.initials: VE
authors.lastname: Newton
authors.forename: M
authors.initials: M
authors.lastname: Vidler
authors.forename: R T
authors.initials: RT
authors.lastname: Ramsden
authors.forename: R H
authors.initials: RH
authors.lastname: Lye
authors.forename: J E
authors.initials: JE
authors.lastname: Dutton
authors.forename: P L
authors.initials: PL
authors.lastname: Richardson
authors.forename: R
authors.initials: R
authors.lastname: Harris
authors.forename: D G
authors.initials: DG
authors.lastname: Evans
authors.forename: T
authors.initials: T
authors.lastname: Strachan
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001300:Audiometry, Evoked Response; D001301:Audiometry, Pure-Tone; D003287:Contrast Media; D005260:Female; D019786:Gadolinium DTPA; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D016518:Neurofibromatosis 2 / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D009942:Organometallic Compounds; D010375:Pedigree; D004369:Pentetic Acid; D010641:Phenotype; D014057:Tomography, X-Ray Computed
chemical_list: D003287:Contrast Media; D009942:Organometallic Compounds; D004369:Pentetic Acid; D019786:Gadolinium DTPA