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.本数据集源自论文Trifirò G、Mora S、Marelli S、Luzi L、Pini A发表于《Bone》2020年6月，第135卷第115333期的研究《儿童及青少年马凡综合征患者骨折发生率升高》，该论文于2020年3月25日在线发表，DOI：10.1016/j.bone.2020.115333，PMID：32222606。马凡综合征（Marfan syndrome, MFS）是一种因原纤维蛋白-1（fibrillin-1）异常引发的常染色体遗传性结缔组织疾病。本研究旨在明确马凡综合征儿童的骨折发生率与骨密度的相关性，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例确诊马凡综合征的患者，其中女童37名、男童43名，中位年龄为10岁（年龄范围3~17岁）。通过马凡综合征患者的医疗记录回溯其骨折发生情况。采用双能X线吸收测定法（dual-energy x-ray absorptiometry）测量患者腰椎、股骨颈及全股骨的骨密度（bone mineral density, BMD）。骨密度值以z评分表示，并采用年龄别身高z评分进行身高校正。同时检测受试者的骨转换标志物及维生素D水平。本研究同时评估了本地理区域（北纬45°）普通儿科人群的骨折发生率。最终在21例患者中累计记录到24次骨折，其中男童15名、女童6名，骨折累及短骨与长骨，均由轻度或中度创伤诱发。本研究计算了年度骨折发生率，结果显示马凡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）。在发生骨折与未发生骨折的患者之间，未观察到人体测量指标、骨密度值及生化指标存在显著差异。同样，接受氯沙坦（losartan）治疗与未接受该治疗的患者在上述各项变量上均无显著差异。综上，与同年龄、同纬度的普通人群相比，马凡综合征患者的骨折发生率更高。马凡综合征的临床管理需关注骨骼健康状态，并应启动骨折预防相关策略。