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A clinical, genetic and audiological study of patients and families with bilateral acoustic neurofibromatosis.
Neary, W J; Newton, V E; Vidler, M; Ramsden, R T; Lye, R H; Dutton, J E; Richardson, P L; Harris, R; Evans, D G; Strachan, T
The Journal of laryngology and otology. 1993;107(1):6-11.
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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 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.