Pereira Elaine Maria
Am J Med Genet C Semin Med Genet. 2015 Dec;169(4):302-6. doi: 10.1002/ajmg.c.31463. Epub 2015 Oct 22.
Although non-accidental injuries (NAI) are more common in cases of unexplained fractures than rare disorders such as osteogenesis imperfecta (OI), ruling out OI and other medical causes of fracture is always indicated. The majority of OI patients can be diagnosed with the help of family history, physical examination, and radiographic findings. In particular, there are a few radiological findings which are seen more commonly in NAI than in OI which may help guide clinician considerations regarding the probability of either of these diagnoses. At the same time, molecular testing still merits careful consideration in cases with unexplained fractures without obvious additional signs of abuse.
尽管在不明原因骨折的病例中,非意外性损伤(NAI)比诸如成骨不全(OI)等罕见疾病更为常见,但始终需要排除OI及其他导致骨折的医学原因。大多数OI患者可借助家族史、体格检查和影像学检查结果得以诊断。特别是,有一些影像学表现,在NAI中比在OI中更常见,这可能有助于指导临床医生考虑这两种诊断的可能性。同时,对于无明显虐待附加迹象的不明原因骨折病例,分子检测仍值得仔细考虑。