Stanescu R, Stanescu V, Bordat C, Maroteaux P
Arch Fr Pediatr. 1980 Oct;37(8):527-30.
A study of epiphyseal cartilage in two children presenting with all the clinical and radiologic features of the dysplasia spondylo-epiphysealis congenita showed abnormalities different from those usually described. In addition to dilatations of the endoplasmic reticulum, there were two types of inclusions observed in the chondrocytes, granules and spirilla, which were limited by a smooth membrane. The intercellular matrix consisted of a dense tangle of fine fibers and numerous dense granules. These findings suggest a heterogeneity for this disease.
一项针对两名患有先天性脊椎骨骺发育不良所有临床和放射学特征的儿童的骨骺软骨研究显示，其异常情况与通常描述的不同。除内质网扩张外，在软骨细胞中还观察到两种包涵体，即颗粒和螺旋体，它们由一层光滑的膜包绕。细胞间基质由密集缠绕的细纤维和大量致密颗粒组成。这些发现提示该疾病存在异质性。
