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J Am Acad Orthop Surg. 1999 Jul-Aug;7(4):217-30.

Neurofibromatosis in children: the role of the orthopaedist.

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Division of Human Genetics, Children's Hospital Medical Center, Cincinnati 45229-3039, USA.


Type 1 neurofibromatosis (NF-1), also known as von Recklinghausen disease, is one of the most common human single-gene disorders, affecting at least 1 million persons throughout the world. It encompasses a spectrum of multifaceted disorders and may present with a wide range of clinical manifestations, including abnormalities of the skin, nervous tissue, bones, and soft tissues. The condition can be conclusively diagnosed when two of seven criteria established by the National Institutes of Health Consensus Development Conference are met. Most children with NF-1 have no major orthopaedic problems. For those with musculoskeletal involvement, the most important issue is early recognition. Spinal deformity, congenital tibial dysplasia (congenital bowing and pseudarthrosis), and disorders of excessive bone and soft-tissue growth are the three types of musculoskeletal manifestations that require evaluation. Statistics gathered from the Cincinnati Children's Hospital Neurofibromatosis Center database show the incidence of spinal deformity in children with NF-1 to be 23.6%; pectus deformity, 4.3%; limb-length inequality, 7.1%; congenital tibial dysplasia, 5.7%; hemihypertrophy, 1.4%; and plexiform neurofibromas, 25%. The orthopaedic complications can be managed, but only rarely are they cured.

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