Hendrickx G, Hoefsloot F, Kramer P, Van Haelst U
Eur J Pediatr. 1983 Jun-Jul;140(3):278-81. doi: 10.1007/BF00443377.
In a case of hypochondrogenesis, abnormal fat deposits were found in the chondrocytes, by anatomopathological and by ultrastructural examination. In the cultured fibroblast we were unable to demonstrate abnormal lipid loading. Our case could be isolated from other types of lethal congenital chondrodysplasias--especially the lethal type of spondyloepiphyseal dysplasia congenita--by microscopic and ultrastructural investigations.
在一例软骨发育不全病例中,通过解剖病理学和超微结构检查发现软骨细胞中有异常脂肪沉积。在培养的成纤维细胞中,我们未能证实存在异常脂质蓄积。通过显微镜和超微结构研究,我们的病例可与其他类型的致死性先天性软骨发育不良——尤其是致死型先天性脊椎骨骺发育不良——相鉴别。