S Dheeksha D, Chandola Stuti, Jain Aayush, Gupta Neerja, Kabra Madhulika, Jana Manisha
Department of Radiodiagnosis and Interventional Radiology, All India Institute of Medical Sciences, New Delhi, India.
Genetics Subdivision, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Indian J Radiol Imaging. 2023 Dec 15;34(2):291-308. doi: 10.1055/s-0043-1777320. eCollection 2024 Apr.
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.
骨骼发育异常或骨软骨发育异常是一大类具有遗传异质性的疾病,在影像学上有显著重叠,这给报告放射科医生带来了诊断难题。这些疾病通常通过详细的骨骼检查进行评估,手部X线片是完整检查的关键部分。某些疾病具有特征性的影像学表现,仅凭手部X线片就能做出诊断。此外,手部X线片也可能显示出提示特定诊断/鉴别诊断的表现,需要进一步评估以证实诊断。我们旨在通过本综述展示手部X线片在诊断各种此类疾病中的应用。虽然手部X线片在诊断中不能替代完整的骨骼检查,但因其他指征进行的手部X线片检查可能会提醒放射科医生注意到未被怀疑的骨骼发育异常的诊断。