, Volume 14, Issue 1, pp 19–31 | Cite as

Bone status in genetic syndromes: A review

  • Stefano StagiEmail author
  • Chiara Iurato
  • Elisabetta Lapi
  • Loredana Cavalli
  • Maria Luisa Brandi
  • Maurizio de Martino


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.

Key words

Bone mineral density Fragility fractures Genetic syndrome Osteoporosis Syndromes 


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Copyright information

© Hellenic Endocrine Society 2015

Authors and Affiliations

  • Stefano Stagi
    • 1
    Email author
  • Chiara Iurato
    • 1
  • Elisabetta Lapi
    • 2
  • Loredana Cavalli
    • 3
  • Maria Luisa Brandi
    • 3
  • Maurizio de Martino
    • 1
  1. 1.Department of Health SciencesUniversity of Florence, Anna Meyer Children’s University HospitalFlorenceItaly
  2. 2.Genetics and Molecular Medicine UnitAnna Meyer Children’s University HospitalFlorenceItaly
  3. 3.Department of Internal Medicine, Endocrinology UnitUniversity of FlorenceFlorenceItaly

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