Abstract：
BACKGROUND: There is limited understanding of the hypothesized association between the Ehlers-Danlos Syndromes (EDS), hypermobility and fractures in children. Despite this, EDS and hypermobility continue to be raised in the legal setting as possible causes of unexplained fractures in infants where there is a concern for physical abuse. Further understanding is needed regarding fractures in children with EDS and hypermobility.
OBJECTIVE: This study assessed fracture prevalence and characteristics in children diagnosed with EDS and Generalized Joint Hypermobility (GJH). The secondary outcome was fracture prevalence in infants <1 year of age.
METHODS: Children aged <18 years with EDS or GJH seen in a single-center EDS clinic from April 2017 to December 2021 were included. Diagnoses were based on the 2017 international classification. Exclusion criteria were concurrent medical conditions associated with bone fragility.
METHODS: This retrospective descriptive study examined variables including fracture history, fracture location, fracture type, age of sustaining fracture, and injury mechanism. Descriptive statistics were used for analysis.
RESULTS: Fracture prevalence was 34.6 % (9/26, 95 % CI [16.3, 52.9]) in the EDS population and 25.4 % (15/59, 95 % CI [14.3, 36.5]) in the GJH population. No fractures occurred in infancy. Most fractures occurred in the limbs. There were no rib or skull fractures. Most fractures were the result of an identifiable injury event.
CONCLUSIONS: In a cohort of children with formally diagnosed EDS or GJH, fractures occurred commonly in ambulatory children and generally in the limbs from identifiable events. This study does not support EDS or GJH as a cause of fractures in infancy.
OBJECTIVE: This study assessed fracture prevalence and characteristics in children diagnosed with EDS and Generalized Joint Hypermobility (GJH). The secondary outcome was fracture prevalence in infants <1 year of age.
METHODS: Children aged <18 years with EDS or GJH seen in a single-center EDS clinic from April 2017 to December 2021 were included. Diagnoses were based on the 2017 international classification. Exclusion criteria were concurrent medical conditions associated with bone fragility.
METHODS: This retrospective descriptive study examined variables including fracture history, fracture location, fracture type, age of sustaining fracture, and injury mechanism. Descriptive statistics were used for analysis.
RESULTS: Fracture prevalence was 34.6 % (9/26, 95 % CI [16.3, 52.9]) in the EDS population and 25.4 % (15/59, 95 % CI [14.3, 36.5]) in the GJH population. No fractures occurred in infancy. Most fractures occurred in the limbs. There were no rib or skull fractures. Most fractures were the result of an identifiable injury event.
CONCLUSIONS: In a cohort of children with formally diagnosed EDS or GJH, fractures occurred commonly in ambulatory children and generally in the limbs from identifiable events. This study does not support EDS or GJH as a cause of fractures in infancy.
摘要：
背景：对Ehlers-Danlos综合征（EDS）之间的假设关联的理解有限，儿童过度活动和骨折。尽管如此,在法律环境中，EDS和过度活动率继续上升，这可能是导致婴儿无法解释的骨折的原因，在这种情况下，人们担心身体虐待。需要进一步了解EDS和过度活动儿童的骨折。
目的：本研究评估了诊断为EDS和广义关节过度活动（GJH）的儿童的骨折患病率和特征。次要结果是小于1岁的婴儿的骨折患病率。
方法：纳入2017年4月至2021年12月在单中心EDS诊所发现的年龄<18岁的EDS或GJH儿童。诊断基于2017年国际分类。排除标准是与骨脆性相关的并发医疗条件。
方法：这项回顾性描述性研究检查了变量，包括骨折史，骨折位置,骨折类型,持续骨折的年龄，和损伤机制。描述性统计用于分析。
结果：EDS人群中骨折患病率为34.6%(9/26,95%CI[16.3,52.9])，GJH人群中骨折患病率为25.4%(15/59,95%CI[14.3,36.5])。婴儿期无骨折发生。大多数骨折发生在四肢。没有肋骨或颅骨骨折。大多数骨折是可识别的损伤事件的结果。
结论：在一组被正式诊断为EDS或GJH的儿童中，骨折通常发生在非卧床儿童中，通常发生在可识别事件的四肢中。这项研究不支持EDS或GJH作为婴儿期骨折的原因。
目的：本研究评估了诊断为EDS和广义关节过度活动（GJH）的儿童的骨折患病率和特征。次要结果是小于1岁的婴儿的骨折患病率。
方法：纳入2017年4月至2021年12月在单中心EDS诊所发现的年龄<18岁的EDS或GJH儿童。诊断基于2017年国际分类。排除标准是与骨脆性相关的并发医疗条件。
方法：这项回顾性描述性研究检查了变量，包括骨折史，骨折位置,骨折类型,持续骨折的年龄，和损伤机制。描述性统计用于分析。
结果：EDS人群中骨折患病率为34.6%(9/26,95%CI[16.3,52.9])，GJH人群中骨折患病率为25.4%(15/59,95%CI[14.3,36.5])。婴儿期无骨折发生。大多数骨折发生在四肢。没有肋骨或颅骨骨折。大多数骨折是可识别的损伤事件的结果。
结论：在一组被正式诊断为EDS或GJH的儿童中，骨折通常发生在非卧床儿童中，通常发生在可识别事件的四肢中。这项研究不支持EDS或GJH作为婴儿期骨折的原因。
