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Journal of Child Neurology, Vol. 17, No. 8, 548-554 (2002)
DOI: 10.1177/088307380201700802

Reviews

Review Article : Neurofibromatosis 1: Clinical Manifestations and Diagnostic Criteria

J.M. Friedman, MD, PhD

Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada

Neurofibromatosis 1 occurs in 2 to 3 people per 10,000. The most frequent clinical features are café-au-Iait macules, neurofibromas, intertriginous freckling, Lisch nodules, and learning disabilities, but optic and other gliomas, malignant peripheral nerve sheath tumors, and characteristic osseous lesions also can be present. Two striking aspects of neurofibromatosis 1 are its progressive nature and its extreme variability. This article reviews the natural history and some important clinical manifestations of neurofibromatosis 1, with emphasis on features that constitute the standard diagnostic criteria. The pathogenic implications of these clinical manifestations are also considered. (J Child Neurol 2002;17:548-554).


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