A constitutional disorder of connective tissue suggesting a defect in collagen biosynthesis

W. N. Meigel, P. K. Müller, B. F. Pontz, N. Sörensen, J. Spranger

Research output: Contribution to journalArticlepeer-review

19 Scopus citations

Abstract

An apparently "new" connective tissue disorder is described in the 10 year old son of consanguineous parents. The patient showed clinical and radiographic abnormalities reminiscent of both osteogenesis imperfecta and Marfan syndrome. Collagen biosynthesis was analysed in fibroblast cultures from skin biopsies. Fibroblasts of the patient synthesized different types of α1 chains. No α2 chains could be detected in cell extracts or in culture media suggesting a defect in the synthesis of these compounds. The peculiar pattern of clinical abnormalities may be causally related to the apparent defect in collagen synthesis.

Original languageEnglish
Pages (from-to)906-912
Number of pages7
JournalKlinische Wochenschrift
Volume52
Issue number19
DOIs
StatePublished - Oct 1974
Externally publishedYes

Keywords

  • Constitutional connective tissue disorder
  • collagen biosynthesis
  • fibroblast cultures

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