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Skeletal features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

The skeletal manifestations of type I neurofibromatosis include:

  • increased incidence of congenital bone abnormalities:
    • kyphoscoliosis due to dysgenesis of vertebral bodies
    • pulsating exophthalmos due to a defect in the posterior wall of the orbit
    • tibial bowing

  • short stature

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