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. 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. 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. 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. 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. 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.

中文翻译：

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诊断为埃勒斯-当洛斯综合征和全身性关节活动过度的儿童骨折患病率


对于儿童埃勒斯-当洛斯综合征 (EDS)、过度活动和骨折之间假设的关联，人们的了解有限。尽管如此，在担心身体虐待的情况下，EDS 和过度活动仍然在法律环境中被认为是导致婴儿不明原因骨折的可能原因。需要进一步了解 EDS 和活动过度儿童的骨折情况。本研究评估了诊断为 EDS 和全身性关节过度活动 (GJH) 的儿童的骨折患病率和特征。次要结果是 1 岁以下婴儿的骨折发生率。纳入2017年4月至2021年12月在单中心EDS诊所就诊的年龄<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状况。这项回顾性描述性研究检查了骨折史、骨折位置、骨折类型、持续骨折年龄和损伤机制等变量。使用描述性统计进行分析。 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])。婴儿期未发生骨折。大多数骨折发生在四肢。没有肋骨或颅骨骨折。大多数骨折是由可识别的伤害事件造成的。在一组正式诊断为 EDS 或 GJH 的儿童中，骨折通常发生在可行走的儿童中，并且通常发生在可识别事件导致的四肢上。这项研究不支持 EDS 或 GJH 作为婴儿期骨折的原因。