Borochowitz Z, Ornoy A, Lachman R, Rimoin D L
Am J Med Genet. 1986 Jun;24(2):273-88. doi: 10.1002/ajmg.1320240208.
Recently hypochondrogenesis was described as a form of neonatally lethal dwarfism said to resemble spondyloepiphyseal dysplasia congenita radiographically and achondrogenesis II morphologically. Because of the difficulty in distinguishing radiographically between mild achondrogenesis II and severe hypochondrogenesis, we performed a clinical, radiographic, and morphologic study of 24 cases originally classified as either achondrogenesis II or hypochondrogenesis, in an attempt to distinguish between heterogeneity and clinical variability. Review of the radiographic findings in these cases show a fairly continuous spectrum of bony defects, rather than two distinct radiographic syndromes. Chondro-osseous histology and ultrastructure was similar in all cases regardless of severity and was characterized by hypervascularity and hypercellularity of the cartilage with multiple small, round dilated cysternae of rough endoplasmic reticulum. These findings suggest that hypochondrogenesis and achondrogenesis type II represent a spectrum with marked phenotypic variability.
最近，低软骨生成被描述为一种新生儿致死性侏儒症，据说在影像学上类似于先天性脊柱骨骺发育不良，在形态学上类似于II型软骨发育不全。由于在影像学上难以区分轻度II型软骨发育不全和重度低软骨生成，我们对最初分类为II型软骨发育不全或低软骨生成的24例病例进行了临床、影像学和形态学研究，试图区分异质性和临床变异性。对这些病例的影像学表现进行回顾发现，骨缺损呈现出相当连续的谱系，而不是两种不同的影像学综合征。无论严重程度如何，所有病例的软骨-骨组织学和超微结构都相似，其特征是软骨血管增多、细胞增多，伴有多个小的、圆形扩张的粗面内质网池。这些发现表明，低软骨生成和II型软骨发育不全代表了一个具有显著表型变异性的谱系。
