Bone status in genetic syndromes: A review

被引：11
作者：
Stagi, Stefano [1 ]
Iurato, Chiara [1 ]
Lapi, Elisabetta [2 ]
Cavalli, Loredana [3 ]
Brandi, Maria Luisa [3 ]
de Martino, Maurizio [1 ]
机构：
[1] Univ Florence, Anna Meyer Childrens Univ Hosp, Dept Hlth Sci, Florence, Italy
[2] Univ Florence, Anna Meyer Childrens Univ Hosp, Genet & Mol Med Unit, Florence, Italy
[3] Univ Florence, Dept Internal Med, Endocrinol Unit, Florence, Italy
来源：
HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM | 2015年 / 14卷 / 01期
关键词：
Bone mineral density; Fragility fractures; Genetic; syndrome; Osteoporosis; Syndromes; PRADER-WILLI-SYNDROME; GROWTH-HORMONE TREATMENT; MINERAL DENSITY; BODY-COMPOSITION; DOWN-SYNDROME; TURNERS-SYNDROME; NOONAN-SYNDROME; KLINEFELTER-SYNDROME; CLINICAL-FEATURES; MARFAN-SYNDROME;
D O I：
10.1007/BF03401378
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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 generated a significant increase in survival related to these syndrome and diseases. It is thus important to identify and treat bone impairment in 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.
引用
收藏
页码：19 / 31
页数：13
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