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          Institute: MPI für molekulare Genetik     Collection: Department of Computational Molecular Biology     Display Documents

ID: 447238.0, MPI für molekulare Genetik / Department of Computational Molecular Biology
Skeletal abnormalities in neurofibromatosis type 1 : approaches to therapeutic options
Authors: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, Feng-Chun; Agiostratidou, Gina; Hunter-Schaedle, Kim; Stevenson, David A.
Date of Publication (YYYY-MM-DD):2009-10
Title of Journal:American Journal of Medical Genetics Part A
Journal Abbrev.:Am J Med Genet A
Issue / Number:10
Start Page:2327
End Page:2338
Copyright:© 2010 Wiley-Liss, Inc., A Wiley Company
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.
Free Keywords:neurofibromatosis; NF1; bone; skeletal dysplasia; osteoblast; osteoclast; tibial dysplasia; pseudarthrosis
Comment of the Author/Creator:email: Florent Elefteriou (florent.elefteriou@vanderbilt.edu)
External Publication Status:published
Document Type:Article
Communicated by:Martin Vingron
Affiliations:MPI für molekulare Genetik
External Affiliations:Department of Medicine, Vanderbilt Center for Bone Biology, Vanderbilt University Medical Center, Nashville, Tennessee
Institute for Medical Genetics, Charité, Universitätsmedizin Berlin, Berlin, Germany
Department of Orthopaedic Research and Biotechnology, The Children's Hospital at Westmead, Sydney, Australia
Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, Australia
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah
Shriners Hospital for Children, Salt Lake City, Utah
Maine Institute for Human Genetics and Health, Brewer, Maine
Human Genetics Division, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio
Department of Orthopedics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
Department of Cell Biology and Anatomy, University of Turku, Turku, Finland
Department of Dermatology, University of Turku, Turku, Finland
Department of Orthopedic Surgery, New York University Hospital for Joint Diseases, New York, New York
Department of Medicine, University of British Columbia, Vancouver, BC, Canada
Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana
Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, Indiana
Children's Tumor Foundation, New York, New York
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