骨骼发育不良家族:诊断的逐步方法。
Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis.
机构信息
From the Department of Radiology, Boston Children's Hospital, 300 Longwood Ave, Boston, MA 02115 (A.H.); Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden (G.G., G.N.); Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden (G.G.); Department of Clinical Genetics and Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden (G.G.); and Center for Intractable Diseases, Saitama University Hospital, Saitama, Japan (G.N.).
出版信息
Radiographics. 2023 May;43(5):e220067. doi: 10.1148/rg.220067.
Skeletal dysplasias are a heterogeneous collection of genetic disorders characterized by bone and cartilage abnormalities, and they encompass over 400 disorders. These disorders are rare individually, but collectively they are common (approximate incidence of one in 5000 births). Radiologists occasionally encounter skeletal dysplasias in daily practice. In the 1980s, Professor Juergen Spranger proposed a concept suitable for the diagnosis of skeletal dysplasias termed He stated that different bone dysplasias that share a similar skeletal pattern can be grouped into a "family," the final diagnosis is feasible through the provisional recognition of a pattern followed by a more careful analysis, and families of bone dysplasias may be the result of similar pathogenetic mechanisms. The prototypes of bone dysplasia families include dysostosis multiplex family, achondroplasia family, spondyloepiphyseal dysplasia congenita family, and Larsen syndrome-otopalatodigital syndrome family. Since Spranger's proposal, the concept of bone dysplasia families, along with advancing genetic techniques, has been validated and further expanded. Today, this molecularly proven concept enables a simple stepwise approach to be applied to the radiologic diagnosis of skeletal dysplasias. The first step is the categorization of a given case into a family based on pattern recognition, and the second step is more meticulous observation, such as identification of different severities of the same pattern or subtle but distinctive findings. Since major skeletal dysplasias are limited in number, radiologists can be familiar with the representative patterns of these disorders. The authors describe a stepwise radiologic approach to diagnosing major skeletal dysplasia families and review the clinical and genetic features of these disorders. Published under a CC BY 4.0 license. Quiz questions for this article are available through the Online Learning Center. and
骨骼发育不良是一组遗传疾病,其特征为骨骼和软骨异常,包括 400 多种疾病。这些疾病虽然在个体中罕见,但总体而言较为常见(每 5000 例出生中约有 1 例)。放射科医生在日常工作中偶尔会遇到骨骼发育不良。20 世纪 80 年代,Juergen Spranger 教授提出了一个适用于骨骼发育不良诊断的概念,称为“模式识别”。他指出,“具有相似骨骼模式的不同骨发育不良可以被归为一个‘家族’”,“通过对模式的初步识别,最终诊断是可行的,然后进行更仔细的分析”,“骨发育不良家族可能是由于相似的发病机制所致”。骨发育不良家族的原型包括多发性发育不良家族、软骨发育不全家族、先天性脊椎骨骺发育不良家族和 Larsen 综合征-耳-腭-指综合征家族。自 Spranger 提出这一概念以来,骨发育不良家族的概念以及先进的遗传技术得到了验证并进一步扩展。如今,这一分子证实的概念使得对骨骼发育不良的放射学诊断可以采用简单的逐步方法。第一步是根据模式识别将给定病例归类为一个家族,第二步是更细致的观察,例如识别同一模式的不同严重程度或细微但有特征的发现。由于主要的骨骼发育不良数量有限,放射科医生可以熟悉这些疾病的代表性模式。作者描述了一种逐步的放射学方法来诊断主要的骨骼发育不良家族,并回顾了这些疾病的临床和遗传特征。在知识共享署名 4.0 许可下发布。本文的测验问题可通过在线学习中心获得。