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骨骼发育异常:影像学方法及常见非致死性骨骼发育异常综述

Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias.

作者信息

Panda Ananya, Gamanagatti Shivanand, Jana Manisha, Gupta Arun Kumar

机构信息

Ananya Panda, Shivanand Gamanagatti, Manisha Jana, Arun Kumar Gupta, Department of Radiodiagnosis, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India.

出版信息

World J Radiol. 2014 Oct 28;6(10):808-25. doi: 10.4329/wjr.v6.i10.808.

Abstract

Skeletal dysplasias are not uncommon entities and a radiologist is likely to encounter a suspected case of dysplasia in his practice. The correct and early diagnosis of dysplasia is important for management of complications and for future genetic counselling. While there is an exhaustive classification system on dysplasias, it is important to be familiar with the radiological features of common dysplasias. In this article, we enumerate a radiographic approach to skeletal dysplasias, describe the essential as well as differentiating features of common non-lethal skeletal dysplasias and conclude by presenting working algorithms to either definitively diagnose a particular dysplasia or suggest the most likely differential diagnoses to the referring clinician and thus direct further workup of the patient.

摘要

骨骼发育异常并非罕见疾病,放射科医生在其临床工作中很可能会遇到疑似发育异常的病例。发育异常的正确早期诊断对于并发症的管理以及未来的遗传咨询非常重要。虽然存在关于发育异常的详尽分类系统,但熟悉常见发育异常的放射学特征很重要。在本文中,我们列举了一种针对骨骼发育异常的影像学方法,描述了常见非致死性骨骼发育异常的基本特征以及鉴别特征,并通过呈现工作算法来结束本文,这些算法要么用于明确诊断特定的发育异常,要么向转诊的临床医生提出最可能的鉴别诊断,从而指导对患者的进一步检查。

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