Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options

Florent Elefteriou, Mateusz Kolanczyk, Aaron Schindeler, David H. Viskochil, Janet M. Hock, Elizabeth K. Schorry, Alvin H. Crawford, Jan M. Friedman, David Little, Juha Peltonen, John C. Carey, David Feldman, Xijie Yu, Linlea Armstrong, Patricia Birch, David L. Kendler, Stefan Mundlos, Feng Chun Yang, Gina Agiostratidou, Kim Hunter-SchaedleDavid A. Stevenson

Research output: Contribution to journalReview article

84 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)2327-2338
Number of pages12
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number10
DOIs
StatePublished - Oct 2009
Externally publishedYes

Keywords

  • Bone
  • Neurofibromatosis
  • NF1
  • Osteoblast
  • Osteoclast
  • Pseudarthrosis
  • Skeletal dysplasia
  • Tibial dysplasia

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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  • Cite this

    Elefteriou, F., Kolanczyk, M., Schindeler, A., Viskochil, D. H., Hock, J. M., Schorry, E. K., Crawford, A. H., Friedman, J. M., Little, D., Peltonen, J., Carey, J. C., Feldman, D., Yu, X., Armstrong, L., Birch, P., Kendler, D. L., Mundlos, S., Yang, F. C., Agiostratidou, G., ... Stevenson, D. A. (2009). Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options. American Journal of Medical Genetics, Part A, 149(10), 2327-2338. https://doi.org/10.1002/ajmg.a.33045