Related Experiment Video
Updated: Apr 14, 2026
Murine Hind Limb Long Bone Dissection and Bone Marrow Isolation
Published on: April 14, 2016
Bone status in genetic syndromes: a review
Stefano Stagi1, Chiara Iurato1, Elisabetta Lapi2
1Health Sciences Department, University of Florence, Anna Meyer Children's University Hospital, University of Florence, Florence, Italy.
Abstract:
More and more data seem to indicate the presence of an increasing number of syndromes and genetic diseases characterized by impaired bone mass and quality. Meanwhile, the improvement of etiopathogenetic knowledge and the employment of more adequate treatments have generated a significant increase in survival related to these syndromes and diseases. It is thus important to identify and treat bone impairment in these patients in order to assure a better quality of life. This review provides an updated overview of bone pathophysiology and characteristics in patients with Down, Turner, Klinefelter, Marfan, Williams, Prader-Willi, Noonan, and 22q11 deletions syndrome. In addition, some options for the treatment of the bone status impairment in these patients will be briefly discussed.
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