Dataset from Trifirò G, Mora S, Marelli S, Luzi L, Pini A. Increased fracture rate in children and adolescents with Marfan syndrome. Bone. 2020 Jun;135:115333. doi: 10.1016/j.bone.2020.115333. Epub 2020 Mar 25. PMID: 32222606.

Dataset from the article Trifirò G, Mora S, Marelli S, Luzi L, Pini A. Increased fracture rate in children and adolescents with Marfan syndrome. Bone. 2020 Jun;135:115333. doi: 10.1016/j.bone.2020.115333. Epub 2020 Mar 25. PMID: 32222606. Abstract Marfan syndrome (MFS) is an autosomal genetic disorder of connective tissue, due to alterated fibrillin-1. The aim of our study was to verify the rate of fractures in children with MFS in correlation to bone mineral density and compare the prevalence to the general population in the same latitude. We enrolled 80 patients (37 girls and 43 boys) with the diagnosis of Marfan syndrome, median age 10 y (3 to 17 years). Fracture occurrence was inferred from medical records of patients with MFS. Bone mineral density (BMD) was measured at lumbar spine, femoral neck and total femur by dual-energy x-ray absorptiometry. BMD values were expressed as z-scores, and adjusted for height using height-for-age z-scores. Bone turnover markers and vitamin D were measured. We assessed incidence of fracture in general pediatric population of our geographic area (45°N latitude). A total of 24 fractures were recorded in 21 patients (15 boys and 6 girls), involving both short and long bones, due to mild or moderate trauma. An incidence estimate has been calculated for each year, and an average incidence of 29.2/1000 MFS patients was obtained, markedly higher (P=0.034) than the incidence of fracture calculated in the same geographical area in pediatric patients (15.8/1000). We did not detect differences in anthropometric measurements, BMD values and biochemical indices between patients who fractured and patients who did not. Similarly, no differences were found between patients on losartan therapy and patients not in treatment for the same variables. In conclusion, the incidence of fractures was higher in patients with MFS compared to general population of the same age and latitude. The management of MFS must account bone status health and start strategies of fracture prevention.本数据集来源于以下论文：Trifirò G、Mora S、Marelli S、Luzi L、Pini A. 马方综合征儿童及青少年骨折发生率升高[J]. Bone, 2020, 135: 115333. DOI: 10.1016/j.bone.2020.115333. 2020年3月25日在线发表. PMID: 32222606. 摘要：马方综合征（Marfan syndrome）是一种由原纤维蛋白-1（fibrillin-1）异常引发的常染色体遗传性结缔组织疾病。本研究旨在明确马方综合征儿童的骨折发生率，探讨其与骨密度的相关性，并将该人群的骨折患病率与同纬度普通人群进行对比。 本研究共纳入80例确诊马方综合征的患者（女童37名，男童43名），中位年龄为10岁（3~17岁）。通过患者的病历记录追溯骨折发生情况；采用双能X线骨密度吸收仪（dual-energy X-ray absorptiometry）检测腰椎、股骨颈及全股骨的骨密度（BMD），骨密度值以Z值表示，并通过年龄别身高Z值进行身高校正。同时检测骨转换标志物及维生素D水平。我们对本地理区域（北纬45°）的普通儿科人群的骨折发生率进行了评估。 结果显示，21例患者（男童15名，女童6名）共发生24例骨折，骨折累及短骨与长骨，均由轻度或中度创伤诱发。按年度计算骨折发生率，马方综合征患者的平均骨折发生率为29.2/1000，显著高于同地理区域儿科普通人群的骨折发生率（15.8/1000，P=0.034）。发生骨折的患者与未发生骨折的患者在人体测量学指标、骨密度值及生化指标上均无显著差异；同样，接受氯沙坦（losartan）治疗的患者与未接受治疗的患者在上述变量中也未观察到显著差异。 综上，与同年龄、同纬度的普通人群相比，马方综合征患者的骨折发生率更高。因此，马方综合征的临床管理需关注骨骼健康状态，并制定骨折预防策略。