The Journal of Laryngology & Otology

Table of Contents - January 1993 - Volume 107, Issue 01  

Main Articles

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

W. J. Nearya1 c1, V. E. Newtona1, M. Vidlera1, R. T. Ramsdena2, R. H. Lyea3, J. E. M. Duttona3, P. L. Richardsona3, R. Harrisa4, D. G. Evansa4 and T. Strachana4

a1 Centre for Audiology, Education of the Deaf and Speech Pathology, School of Education, University of Manchester

a2 Department of Otolaryngology, Manchester Royal Infirmary.

a3 Department of Neurosurgery, Manchester Royal Infirmary.

a4 The Department of Medical Genetics, St. Mary's Hospital, manchester.

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.

(Accepted September 26 1992)

Key words

Correspondence:

c1 W. J. Neary, Centre for Audiology, Education of the Deaf and Speech Pathology, School of Education, University of Manchester, Oxford Road, Manchester M13 9PL.

Footnotes

Manchester

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