Azouz E M, Teebi A S, Eydoux P, Chen M F, Fassier F
Department of Medical Imaging, Montreal Children's Hospital, Montreal, Que.
Can Assoc Radiol J. 1998 Apr;49(2):105-9.
Although individual bone dysplasias are rare, as a group they are relatively common and have a significant effect on morbidity and mortality at all ages. In this brief introduction, radiologic classification, diagnosis and differential diagnosis are given. The radiologic diagnosis is emphasized, since distinction among the various bone dysplasias is based largely on radiographic findings. Prenatal diagnosis relies heavily on high-resolution real-time ultrasonography of the fetus. Precise antenatal ultrasonographic diagnosis of a bone dysplasia may be very difficult; however, accurate differentiation of a lethal versus a nonlethal anomaly is relatively easy. There has been a recent explosion of knowledge about the genetic basis of skeletal dysplasias. Collagen gene mutations have been found to be responsible for osteogenesis imperfecta and many other bone dysplasias. The locations of the genes implicated in achondroplasia and some other chondrodysplasias are now known. Histologic analysis of the growth plate may also provide specific diagnostic features in achondroplasia and other bone dysplasias. A team approach is mandatory for the diagnosis and management of this fascinating and challenging group of diseases.
尽管单个骨发育异常较为罕见，但作为一个群体它们相对常见，并且对各年龄段的发病率和死亡率都有显著影响。在这篇简短的介绍中，给出了放射学分类、诊断及鉴别诊断。着重强调放射学诊断，因为各种骨发育异常之间的区分很大程度上基于影像学表现。产前诊断在很大程度上依赖于胎儿的高分辨率实时超声检查。对骨发育异常进行精确的产前超声诊断可能非常困难；然而，区分致死性与非致死性异常相对容易。最近关于骨骼发育异常的遗传基础的知识有了迅猛增长。已发现胶原蛋白基因突变是成骨不全及许多其他骨发育异常的病因。现在已知与软骨发育不全及其他一些软骨发育异常相关的基因位置。生长板的组织学分析在软骨发育不全及其他骨发育异常中也可能提供特定的诊断特征。对于诊断和管理这一引人入胜且具有挑战性的疾病群体，团队协作是必不可少的。
