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 language | English |
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Pages (from-to) | 906-912 |
Number of pages | 7 |
Journal | Klinische Wochenschrift |
Volume | 52 |
Issue number | 19 |
DOIs | |
State | Published - Oct 1974 |
Externally published | Yes |
Keywords
- Constitutional connective tissue disorder
- collagen biosynthesis
- fibroblast cultures