Progeria: a cell culture study and clinical report of familial incidence

Eur J Pediatr. 1977 Jan 26;124(2):101-11. doi: 10.1007/BF00477545.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Cells, Cultured
  • Collagen
  • Female
  • Fibroblasts
  • Fluorescent Antibody Technique
  • Humans
  • Infant
  • Progeria / genetics*
  • Progeria / pathology
  • Skin / analysis
  • Skin / pathology

Substances

  • Collagen