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NF1

  • Criteria

    • 2/7 of the following:
    • FH
      • A first degree relative with NF1
    • neurofibromas
      • 2 or more or 1 that is plexiform
    • Cafe au lait spots
      • 6 or more in number
      • over 5 mm diameter in kids
      • over 15 mm post-pubertal
    • axillary (or inguinal) freckling (Crowe sign)
    • optic glioma
    • Lisch nodules (iris hamartomas)
      • 2 or more in number
    • typical bone abnormalities
      • kyphoscoliosis
      • sphenoid dysplasia
      • thinning of the long bone cortex

  • Print | Citations

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