Rib Fractures in Osteogenesis Imperfecta: Have we Learnt Anything About Child Abuse?
Rib Fractures in Osteogenesis Imperfecta: Have we Learnt Anything About Child Abuse?
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成骨不全症中的肋骨骨折：我们是否了解有关虐待儿童的任何信息？
DOI：
10.1097/bpo.0000000000000508
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发表时间：
2015
期刊：
影响因子：
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通讯作者：
A. Calder
中科院分区：
文献类型：
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作者：
S. Shelmerdine;O. Arthurs;A. Calder
我们饶有兴趣地阅读了格里利等人1最近发表的题为“婴儿和儿童成骨不全的骨折诊断”的论文，以及Paterson最近发表的评论。我们相信，格里利及其同事提出的研究问题提出了重要的问题，特别是对于患有轻度成骨障碍（OI）的患者亚组，其影像学表现可能难以与儿童身体虐待（CPA）（或非意外伤害）区分开来。格里利等人1假设，在诊断时，在OI儿童中观察到的骨折模式与在CPA中观察到的骨折模式不同;然而，我们担心他们的方法学不允许他们解决这个问题，原因有几个。他们没有根据OI的松散定义来明确定义他们的研究组。他们没有研究对照组，以比较他们的疑似OI病例组。关于影像学方案和骨折识别方法的详细信息不充分。未记录获得的放射学图像数量，可能因患者而异。未对X线片进行分析，而是依赖患者记录中的文件。缺乏骨折的详细信息，包括骨折位置或骨矿物质密度，低估了这些特征在区分骨脆性状态与CPA或其他诊断中的作用。最后，应该认识到，骨脆性状态和CPA不是相互排斥的。除非在每一个病例中都进行基因检测和忏悔，否则骨折是否是意外造成的不能基于一张X光照片。Paterson认为，格里利的研究是有缺陷的，因为他们没有发现肋骨骨折的OI，虽然“肋骨骨折确实发生在已知的情况下。”他用OI III型胸片来说明自己的观点，称其为“出生当天存在肋骨骨折的婴儿”。很少有医生会建议CPA的存在多个愈合的肋骨和肱骨骨折在一个严重的骨质减少的婴儿出生当天，这意味着产前在子宫内骨折。虽然格里利和同事没有给出他们病例的确切年龄，但他们确实发现了15例肋骨骨折（22%），其中13例在产前或出生后立即诊断，12例有蓝色巩膜，10例有骨质减少，5例有OI家族史，这与我们自己的临床经验基本一致。Paterson还提出，“自发性肋骨萎缩在广泛的代谢紊乱中被发现。”虽然肋骨骨折是早产儿骨病的一个公认特征，但没有系统证据表明肋骨骨折发生在缺乏维生素D而没有佝偻病的情况下，即使存在佝偻病，肋骨骨折在不能移动的婴儿中也是罕见的。3足月儿铜缺乏症中没有低创伤肋骨骨折的报道。4当发生在早产儿中时，铜缺乏可能只是导致严重骨质脆弱的几个因素之一。很少有出版物支持这一点。5总体而言，很难从数据中得出任何强有力的结论，我们很惊讶格里利和同事能够证明他们的声明，即“多处肋骨骨折的婴儿不太可能患有未诊断的OI”。我们特别关注的是，这些数据如何在法医学环境中进行调整和使用，这些“证据”可能会被起诉团队支持，以反驳多发性肋骨损伤儿童的替代诊断。研究方法的改进可能会产生更有意义的结果，这可能会使更有力的结论有助于法医学系统。
We read with interest the recent paper by Greeley et al1 entitled “Fractures at diagnosis in infants and children with osteogenesis imperfecta” and the recent accompanying commentary by Paterson. We believe the research question presented by Greeley and colleagues raises important issues especially for the subgroup of patients suffering from milder types of osteogenesis imperfecta (OI), where the radiographic findings may be difficult to differentiate from child physical abuse (CPA) (or nonaccidental injury). Greeley et al1 hypothesized that fracture patterns seen in children with OI at time of diagnosis differ from those seen in CPA; however, we are concerned that their methodology did not allow them to address this question for several reasons. They did not robustly define their study group relying on a loose definition of OI. They did not study a control group, against which to compare their group of suspected OI cases. There were insufficient details presented regarding the radiographic protocols and fracture identification methodology. The number of radiologic images obtained were not documented, and may have varied between patients. Analysis of the radiographs was not conducted, instead relying on documentation within the patient notes. The lack of details of the fractures, including fracture location or bone mineral density underplays the role these features might play in differentiating bone fragility states from CPA or alternative diagnoses. Finally, it should be recognized that bone fragility states and CPA are not mutually exclusive. Unless genetic testing and confessionals are taken in every case, whether a fracture was caused accidentally or not cannot be based on a single radiograph. Paterson argues that Greeley’s study is flawed because they did not find rib fractures in OI although “rib fractures do occur in known cases.” He illustrates his point with a chest radiograph of OI type III as an “infant with rib fracturesy present on the day of birth.” Few practitioners would suggest CPA in the presence of multiple healing rib and humeral fractures in a severely osteopenic infant on the day of birth, implying antenatal in utero fractures. Although Greeley and colleagues do not give details of the exact ages of their cases, they did identify rib fractures in 15 (22%), of which 13 were diagnosed prenatally or immediately after birth, 12 had blue sclera, 10 had osteopenia, and 5 had a family history of OI, largely consistent with our own clinical experience. Paterson also suggests that “spontaneous rib fracturesy are found in a wide range of metabolic disorders.” While rib fractures are a well-recognized feature of osteopathy of prematurity, there is no systematic evidence that rib fractures occur in vitamin D deficiency in the absence of rickets, and even in the presence of rickets, rib fractures are rare in a nonmobile infant.3 Low-trauma rib fractures have not been reported in copper deficiency in term infants.4 When they occur in preterm infants, copper deficiency is likely to be only one of several factors leading to severe bony fragility. There are few publications to support this.5 Overall, it is difficult to draw any strong conclusions from the data, and we are surprised that Greeley and colleagues were able to justify their statement that “infants with multiple rib fractures are unlikely to be suffering from undiagnosed OI.” We are especially concerned by how these data may be adapted and used in the medicolegal setting where such “evidence” may be upheld by a prosecuting team to refute an alternative diagnosis in a child with multiple rib injuries. Improvements in study methodology may have produced more meaningful results, which could have allowed stronger conclusions to help the medicolegal system.