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A clinical, genetic and audiological study of patients and families with bilateral acoustic neurofibromatosis

Published online by Cambridge University Press:  29 June 2007

W. J. Neary ,
V. E. Newton ,
M. Vidler ,
R. T. Ramsden ,
R. H. Lye ,
J. E. M. Dutton ,
P. L. Richardson ,
R. Harris ,
D. G. Evans  and
T. Strachan
W. J. Neary*
Affiliation:
Centre for Audiology, Education of the Deaf and Speech Pathology, School of Education, University of Manchester
V. E. Newton
Affiliation:
Centre for Audiology, Education of the Deaf and Speech Pathology, School of Education, University of Manchester
M. Vidler
Affiliation:
Centre for Audiology, Education of the Deaf and Speech Pathology, School of Education, University of Manchester
R. T. Ramsden
Affiliation:
Department of Otolaryngology, Manchester Royal Infirmary.
R. H. Lye
Affiliation:
Department of Neurosurgery, Manchester Royal Infirmary.
J. E. M. Dutton
Affiliation:
Department of Neurosurgery, Manchester Royal Infirmary.
P. L. Richardson
Affiliation:
Department of Neurosurgery, Manchester Royal Infirmary.
R. Harris
Affiliation:
The Department of Medical Genetics, St. Mary's Hospital, manchester.
D. G. Evans
Affiliation:
The Department of Medical Genetics, St. Mary's Hospital, manchester.
T. Strachan
Affiliation:
The Department of Medical Genetics, St. Mary's Hospital, manchester.
*
W. J. Neary, Centre for Audiology, Education of the Deaf and Speech Pathology, School of Education, University of Manchester, Oxford Road, Manchester M13 9PL.
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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 cafe-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.

Keywords

NeuromaacousticbilateralNeurofibromatosiscentralNF-2AudiologyGenetics
Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 107 , Issue 1 , January 1993 , pp. 6 - 11
Copyright
Copyright © JLO (1984) Limited 1993

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