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.

中文翻译：

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马凡综合征儿童和青少年骨折率增加

马凡综合征 (MFS) 是结缔组织的一种常染色体遗传病，由纤维蛋白-1 改变引起。我们研究的目的是验证 MFS 儿童骨折率与骨矿物质密度的相关性，并将患病率与同一纬度的一般人群进行比较。我们招募了 80 名诊断为马凡综合征的患者（37 名女孩和 43 名男孩），中位年龄为 10 岁（3 至 17 岁）。从 MFS 患者的医疗记录推断骨折发生。通过双能 X 射线吸收法测量腰椎、股骨颈和总股骨的骨矿物质密度 (BMD)。BMD 值表示为 z 分数，并使用年龄别身高 z 分数调整身高。测量骨转换标志物和维生素 D。我们评估了我们地理区域（北纬 45°）的一般儿科人群的骨折发生率。由于轻度或中度创伤，21 名患者（15 名男孩和 6 名女孩）共记录了 24 处骨折，涉及短骨和长骨。对每年的发病率进行了估计，获得了 29.2/1000 名 MFS 患者的平均发病率，明显高于 (P=0.034) 在同一地理区域计算的儿科患者骨折发生率 (15.8/1000)。我们没有检测到骨折患者和未骨折患者在人体测量、BMD 值和生化指标方面的差异。同样，对于相同的变量，在接受氯沙坦治疗的患者和未接受治疗的患者之间没有发现差异。综上所述，与同龄、同纬度的一般人群相比，MFS 患者的骨折发生率更高。MFS 的管理必须考虑骨骼健康状况并启动骨折预防策略。