title: Bone status in genetic syndromes: a review.
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.
authors.affiliation: Health Sciences Department, University of Florence, Anna Meyer Children's University Hospital, University of Florence, Florence, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Stagi
authors.affiliation: Health Sciences Department, University of Florence, Anna Meyer Children's University Hospital, University of Florence, Florence, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Iurato
authors.affiliation: Genetics and Molecular Medicine Unit, Anna Meyer Children's University Hospital, University of Florence, Florence, Italy.
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Lapi
authors.affiliation: Department of Internal Medicine, Endocrinology Unit, University of Florence, Florence, Italy.
authors.forename: Loredana
authors.initials: L
authors.lastname: Cavalli
authors.affiliation: Department of Internal Medicine, Endocrinology Unit, University of Florence, Florence, Italy.
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Brandi
authors.affiliation: Health Sciences Department, University of Florence, Anna Meyer Children's University Hospital, University of Florence, Florence, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: de Martino
mesh_terms: D015519:Bone Density / Q000235:genetics*; D001842:Bone and Bones / Q000473:pathology*; D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics / Q000473:pathology*; D009634:Noonan Syndrome / Q000235:genetics / Q000473:pathology*