The development and growth of the skeleton is frequently affected in individuals with NF1, and some of these bone manifestations can result in significant health concerns including amputation. This week sees the publication* of the Children’s Tumor Foundation’s consensus recommendations for the clinical management of NF1 –related skeletal abnormalities, and looks ahead to therapeutic treatment of these. These recommendations are the result of a February 2008 Workshop convened by the Children’s Tumor Foundation comprising world leaders – from the US, Europe and Australia – in NF1 bone abnormalities clinical management and research. The meeting, and the published report, was led by Dr. David Stevenson (University of Utah) and Dr. Florent Elefteriou (Vanderbilt University). Dr. Elefteriou was a few years ago the recipient of a Young Investigator Award from the Foundation. Following the meeting the group established an International Neurofibromatosis Type 1 Bone Abnormalities Consortium to ensure continued collaboration and advancement toward better clinical management and effective drug therapies for NF1-related skeletal abnormalities.
This report was accepted for publication in the American Journal of Medical Genetics, and in addition an image from the paper was selected for the cover of the October issue of AJMG, a great honor for any scientific paper.
