PDF(Pubmed)
Abstract：
Skeletal dysplasias or osteochondrodysplasias comprise a large heterogeneous group of genetic disorders and possess significant overlap on imaging, which adds to the dilemma of the reporting radiologist. These entities are routinely evaluated with a detailed skeletal survey and hand radiographs form a crucial part of a complete survey. Certain conditions have characteristic imaging findings that enable a diagnosis be made on hand radiograph alone. Additionally, hand radiographs may also demonstrate findings that may be suggestive of a particular diagnosis/differential diagnoses and would warrant further assessment for proving the same. We aim to demonstrate the use of hand radiographs in diagnosis of various such entities through this review. Although they cannot replace a complete skeletal survey in the diagnosis, hand radiographs performed for other indications might alert a radiologist to the diagnosis of an unsuspected skeletal dysplasia.
摘要：
骨骼发育不良或骨软骨发育不良包括大量异质性的遗传性疾病，并且在影像学上具有明显的重叠。这增加了放射科医生的进退两难。通过详细的骨骼调查对这些实体进行例行评估，而手部射线照片则是完整调查的关键部分。某些情况具有特征性的影像学发现，可以仅在手部X光片上进行诊断。此外,手部X线片也可能显示可能提示特定诊断/鉴别诊断的发现，并且需要进一步评估以证明相同的结果。我们的目的是通过这篇综述来证明手部X光片在诊断各种此类实体中的应用。尽管它们不能代替诊断中的完整骨骼检查，针对其他适应症进行的手部X光片可能会提醒放射科医师对未怀疑的骨骼发育不良的诊断。
