Sillence D O, Horton W A, Rimoin D L
Am J Pathol. 1979 Sep;96(3):813-70.
Considerable progress has been made in the delineation of the genetic skeletal dysplasias, a heterogeneous group of disorders, that consist of over 80 distinct conditions. Morphologic studies have added a further dimension to the delineation of these conditions, their diagnosis, and the investigation of their pathogenetic mechanisms. In certain diseases, the morphologic alterations are characteristic and pathognomonic. In others only nonspecific alterations are observed, whereas in still other disorders growth-plate structure is essentially normal. Histologic, histochemical, and electronmicroscopic studies of growth-plate cartilage have provided new insights into the complexity of morphogenetic events in normal growth through the demonstration of morphologic defects in the genetic disorders of skeletal growth. As yet, very little is known of the biochemical abnormalities underlying the morphologic abnormalities. However, the great variety of morphologic findings points to a number of different pathogenetic defects in the synthesis, release, and assembly of connective tissue macromolecules and in the cells involved in growth-plate metabolism.
在遗传性骨骼发育不良（一组由80多种不同病症组成的异质性疾病）的描述方面已经取得了相当大的进展。形态学研究为这些病症的描述、诊断及其发病机制的研究增添了新的维度。在某些疾病中，形态学改变具有特征性且可作为诊断依据。在其他疾病中，仅观察到非特异性改变，而在另外一些病症中，生长板结构基本正常。通过对骨骼生长遗传性疾病中的形态学缺陷进行论证，生长板软骨的组织学、组织化学和电子显微镜研究为正常生长过程中形态发生事件的复杂性提供了新的见解。迄今为止，对于形态学异常背后的生化异常了解甚少。然而，各种各样的形态学发现表明，在结缔组织大分子的合成、释放和组装以及参与生长板代谢的细胞中存在许多不同的致病缺陷。
