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 multifacted 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 2 of 7 criteria established by the National Institutes of Health Consensus Development Conference are met. Most children with NF-1 have no major orthopedic 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 manifestitations that require evaluation. Statistics gathered from the Cincinnati Children's Hospital Neurofibromatosis Center database of 588 patients show the incidence of spinal deformity in children with NF-1 to be 21%; pectus deformity, 4.3%; limb-length inequality, 7.1%; congenital tibial dysplasia, 5%; hemihypertrophy, 1.4%; and plexiform neurofibromas, 25%. The orthopedic complications can be managed, but only rarely are they cured. Current developments in molecular genetics are exciting and give hope to more positive outcomes.



Polls results
1

On a scale of 1 to 10, rate how much this article will change your clinical practice?

NO change
BIG change
55% Article relates to my practice (10/18)
33% Article does not relate to my practice (6/18)
11% Undecided (2/18)
2

Will this article lead to more cost-effective healthcare?

50% Yes (9/18)
22% No (4/18)
27% Undecided (5/18)
3

Was this article biased? (commercial or personal)

0% Yes (0/18)
100% No (18/18)
0% Undecided (0/18)
4

What level of evidence do you think this article is?

0% Level 1 (0/18)
5% Level 2 (1/18)
22% Level 3 (4/18)
38% Level 4 (7/18)
33% Level 5 (6/18)