Spranger J
Children's Hospital, University of Mainz, West Germany.
Am J Med Genet. 1989 Sep;34(1):96-104. doi: 10.1002/ajmg.1320340117.
The usefulness of radiodiagnostics in the delineation of bone dysplasias is exemplified by an attempt to classify the lethal osteochondrodysplasias. Based on morphologic criteria these disorders are subdivided into 11 major categories. Within these categories pathogenetically related bone dysplasia families can be discerned. Radiology meets its limits when different mutations lead to identical or overlapping phenotypes. In the future radiology will keep its prominent place in the diagnosis and nosology of inborn errors of skeletal development because of its ready availability, speed, non-invasiveness, and discriminating power. As shown by disorders such as metatropic dysplasia or iduronidase deficiency, radiology is most important to evaluate the prognosis of a given condition.
放射诊断学在骨发育异常的鉴别诊断中的作用,可通过对致死性骨软骨发育异常进行分类的尝试得到例证。根据形态学标准,这些疾病可细分为11个主要类别。在这些类别中,可以识别出与发病机制相关的骨发育异常家族。当不同的突变导致相同或重叠的表型时,放射学就会遇到其局限性。由于其易于获得、速度快、无创性和鉴别能力,放射学在未来骨骼发育先天性疾病的诊断和分类学中将继续占据突出地位。如脊柱骨骺发育不良或艾杜糖醛酸酶缺乏症等疾病所示,放射学对于评估特定病情的预后最为重要。