Neurofibromatosis 1: Clinical manifestations and diagnostic criteria

被引:106
作者
Friedman, JM [1 ]
机构
[1] Univ British Columbia, Dept Med Genet, Vancouver, BC V6T 1Z3, Canada
关键词
D O I
10.1177/088307380201700802
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Neurofibromatosis 1 occurs in 2 to 3 people per 10,000. The most frequent clinical features are cafe-au-lait 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.
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页码:548 / 554
页数:7
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