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Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options
Author(s) -
Elefteriou Florent,
Kolanczyk Mateusz,
Schindeler Aaron,
Viskochil David H.,
Hock Janet M.,
Schorry Elizabeth K.,
Crawford Alvin H.,
Friedman Jan M.,
Little David,
Peltonen Juha,
Carey John C.,
Feldman David,
Yu Xijie,
Armstrong Linlea,
Birch Patricia,
Kendler David L.,
Mundlos Stefan,
Yang FengChun,
Agiostratidou Gina,
HunterSchaedle Kim,
Stevenson David A.
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33045
Subject(s) - neurofibromatosis , medicine , natural history , clinical trial , bioinformatics , disease , neurofibromatosis type 2 , pathology , intensive care medicine , biology
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. © 2009 Wiley‐Liss, Inc.