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  • Title: The orthopedic manifestation of neurofibromatosis. A clinical experience and review of the literature.
    Author: DiSimone RE, Berman AT, Schwentker EP.
    Journal: Clin Orthop Relat Res; 1988 May; (230):277-83. PubMed ID: 3130209.
    Abstract:
    A retrospective review of 47 patients with neurofibromatosis was performed to evaluate the effects of that disease on patient function and disability. Clinical manifestations were distributed as follows: cafe-au-lait markings were the most prevalent manifestation (87%), followed by a positive family history (49%), scoliosis (53%), neurofibromata (19%), and pseudarthrosis of the tibia (19%). The classic scoliosis was resistant to brace treatment; bracing failed in 70% of patients, necessitating spinal fusion. Pseudarthrosis of the tibia can be subdivided into normal, narrow sclerotic, and cystic medullary canal groups. This study supported the theory that tibias with narrow sclerotic medullary canals should be prophylactically braced until skeletal maturity to prevent fracture. Once fractured, the incidence of non-union is high regardless of treatment mode. Eighty percent of patients with pseudarthrosis of the tibia did not heal with multiple bone grafts and were amputated below the knee. Many patients in this study were educable or only mildly mentally retarded, and performed quite well in activities of daily living.
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