title: Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options.
abstract: The skeleton is frequently affected in individuals with neurofibromatosis type 1, and some of these bone manifestations can result in significant morbidity. The natural history and pathogenesis of the skeletal abnormalities of this disorder are poorly understood and consequently therapeutic options for these manifestations are currently limited. The Children's Tumor Foundation convened an International Neurofibromatosis Type 1 Bone Abnormalities Consortium to address future directions for clinical trials in skeletal abnormalities associated with this disorder. This report reviews the clinical skeletal manifestations and available preclinical mouse models and summarizes key issues that present barriers to optimal clinical management of skeletal abnormalities in neurofibromatosis type 1. These concepts should help advance optimal clinical management of the skeletal abnormalities in this disease and address major difficulties encountered for the design of clinical trials.
authors.affiliation: Department of Medicine, Vanderbilt Center for Bone Biology, Vanderbilt University Medical Center, Nashville, Tennessee 37232-0575, USA. florent.elefteriou@vanderbilt.edu
authors.forename: Florent
authors.initials: F
authors.lastname: Elefteriou
authors.forename: Mateusz
authors.initials: M
authors.lastname: Kolanczyk
authors.forename: Aaron
authors.initials: A
authors.lastname: Schindeler
authors.forename: David H
authors.initials: DH
authors.lastname: Viskochil
authors.forename: Janet M
authors.initials: JM
authors.lastname: Hock
authors.forename: Elizabeth K
authors.initials: EK
authors.lastname: Schorry
authors.forename: Alvin H
authors.initials: AH
authors.lastname: Crawford
authors.forename: Jan M
authors.initials: JM
authors.lastname: Friedman
authors.forename: David
authors.initials: D
authors.lastname: Little
authors.forename: Juha
authors.initials: J
authors.lastname: Peltonen
authors.forename: John C
authors.initials: JC
authors.lastname: Carey
authors.forename: David
authors.initials: D
authors.lastname: Feldman
authors.forename: Xijie
authors.initials: X
authors.lastname: Yu
authors.forename: Linlea
authors.initials: L
authors.lastname: Armstrong
authors.forename: Patricia
authors.initials: P
authors.lastname: Birch
authors.forename: David L
authors.initials: DL
authors.lastname: Kendler
authors.forename: Stefan
authors.initials: S
authors.lastname: Mundlos
authors.forename: Feng-Chun
authors.initials: FC
authors.lastname: Yang
authors.forename: Gina
authors.initials: G
authors.lastname: Agiostratidou
authors.forename: Kim
authors.initials: K
authors.lastname: Hunter-Schaedle
authors.forename: David A
authors.initials: DA
authors.lastname: Stevenson
mesh_terms: D000818:Animals; D001848:Bone Diseases, Developmental / Q000150:complications* / Q000151:congenital / Q000628:therapy*; D001842:Bone and Bones / Q000002:abnormalities; D004195:Disease Models, Animal; D006801:Humans; D051379:Mice; D008954:Models, Biological; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000175:diagnosis / Q000628:therapy*; D013100:Sphenoid Bone / Q000002:abnormalities; D035441:Thoracic Wall / Q000002:abnormalities; D013977:Tibia / Q000002:abnormalities