Loại 1 neurofibromatosis (NF-1), Cũng được biết đến như bệnh von Recklinghausen, là một trong những phổ biến KHCN của con người rối loạn gen đơn, ít nhất là người ảnh hưởng đến suốt thế giới. Nó bao gồm một quang phổ của các rối loạn đa diện và thể hiện với một loạt các biểu hiện lâm sàng, | Neurofibromatosis in Children The Role of the Orthopaedist Alvin H. Crawford MD FACS and Elizabeth K. Schorry MD Abstract 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 ChildrenÕs Hospital Neurofibromatosis Center database show the incidence of spinal deformity in children with NF-1 to be pectus deformity limb-length inequality congenital tibial dysplasia hemihypertrophy and plexiform neurofibromas 25 . The orthopaedic complications can be managed but only rarely are they cured. J Am Acad Orthop Surg 1999 7 217-230 Type 1 neurofibromatosis NF-1 or von Recklinghausen disease is a multisystem disease that primarily affects cell growth of neural tissue. It is an autosomal dominant disorder with approximately 50 of cases due to new mutation. The entity is quite common affecting 1 in 4 000 individuals and is one of the most common dominantly inherited gene disorders in humans. In 1990 the gene locus of NF-1 in humans was cloned and its protein product neurofibromin was In 1993 the gene for central neurofibromatosis NF-2 was cloned and its protein product merlin
