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Orthop Clin North Am. 2007 Oct;38(4):553-62, vii.

Scoliosis associated with neurofibromatosis.

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Cincinnati Children's Hospital, 3333 Burnet Avenue, ML 2017, Cincinnati, OH 45229-3039, USA.


Neurofibromatosis type 1 (NF-1) is a multisystemic disease. It may manifest as abnormalities of the nervous tissue, bones, soft tissue, and skin. The manifestations of NF-1 vary from person to person and range from subclinical to severe. Individuals who carry the gene eventually exhibit some clinical feature of the disease. The penetrance for NF-1 nears 100% during adulthood. Skeletal abnormalities are common in NF-1, with most patients presenting with some type of bony dysplasia. The orthopedic complications usually appear early. They include spinal deformities, such as scoliosis or kyphosis, congenital tibial dysplasia with bowing and pseudarthrosis of the tibia, forearm, other bones, as well as overgrowth phenomenon of an extremity, and soft tissue tumors.

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