Rautenstrauch T, Snigula F
Eur J Pediatr. 1977 Jan 26;124(2):101-11. doi: 10.1007/BF00477545.
This report relates the case histories of two sisters who demonstrated the typical symptoms of progeria at birth. One of these children had died previous to this study. The familial occurrence underlines the thesis that progeria is an autosomal-recessive disorder. The examination of the cultured skin fibroblasts from the younger child showed a clear decrease in cell growth. On the other hand, the immunfluorescent examination of skin biopsies and cultured skin fibroblasts revealed no atypical distribution of collagen types.
本报告讲述了两姐妹的病史，她们在出生时就表现出早衰的典型症状。其中一个孩子在本研究之前已经去世。家族性发病强调了早衰是一种常染色体隐性疾病的论点。对年幼孩子培养的皮肤成纤维细胞的检查显示细胞生长明显减少。另一方面，对皮肤活检和培养的皮肤成纤维细胞的免疫荧光检查未发现胶原类型的非典型分布。
