Walsh J, Reardon W
Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland.
Arch Dis Child. 2008 Jan;93(1):65-7. doi: 10.1136/adc.2007.125443. Epub 2007 Sep 5.
Awareness of the rare condition of Job syndrome is low among both paediatricians and geneticists. Consequently, observation of the recurrent fractures in the majority of such cases can result in misdiagnosis of non-accidental injury in young children who have the syndrome. The case we report here represents an example of this diagnostic pitfall, which deserves wide recognition due to the serious consequences for children, families and paediatricians acting as experts in legal actions in such circumstances.
儿科医生和遗传学家对乔布综合征这种罕见病症的认知度都很低。因此，在大多数此类病例中，对反复骨折的观察可能会导致对患有该综合征幼儿的非意外伤害做出误诊。我们在此报告的病例就是这种诊断陷阱的一个例子，鉴于其对儿童、家庭以及在此类情况下作为法律诉讼专家的儿科医生会产生严重后果，所以值得广泛关注。
