A clinical, genetic and audiological study of patients and families with bilateral acoustic neurofibromatosis.
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.
Neary
W J
WJ
Centre for Audiology, School of Education, University of Manchester.
Newton
V E
VE
Vidler
M
M
Ramsden
R T
RT
Lye
R H
RH
Dutton
J E
JE
Richardson
P L
PL
Harris
R
R
Evans
D G
DG
Strachan
T
T
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
D003287:Contrast Media; D009942:Organometallic Compounds; D004369:Pentetic Acid; D019786:Gadolinium DTPA