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Bone status in genetic syndromes: A review

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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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Authors and Affiliations

  1. Department of Health Sciences, University of Florence, Anna Meyer Children’s University Hospital, Florence, Italy

    Stefano Stagi MD, Chiara Iurato & Maurizio de Martino

  2. Genetics and Molecular Medicine Unit, Anna Meyer Children’s University Hospital, Florence, Italy

    Elisabetta Lapi

  3. Department of Internal Medicine, Endocrinology Unit, University of Florence, Florence, Italy

    Loredana Cavalli & Maria Luisa Brandi

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  1. Stefano Stagi MD
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  2. Chiara Iurato
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  3. Elisabetta Lapi
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  6. Maurizio de Martino
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Correspondence to Stefano Stagi MD.

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Stagi, S., Iurato, C., Lapi, E. et al. Bone status in genetic syndromes: A review. Hormones 14, 19–31 (2015). https://doi.org/10.1007/BF03401378

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