Summary
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 ofα1 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.
Zusammenfassung
Es wird über eine konstitutionelle Bindegewebserkrankung bei dem 10 Jahre alten Sohn blutsverwandter Eltern berichtet. Das klinische und röntgenologische Befundmuster unterscheidet sich von bisher bekannten Syndromen, insbesondere der Osteogenesis imperfecta und dem Marfan-Syndrom, mit denen gewisse Ähnlichkeiten bestehen. In Fibroblastenkulturen aus Hautbiopsien wurde die Kollagenbiosynthese untersucht. Dabei zeigte sich, daß die Fibroblasten unterschiedliche Typen von α1-Ketten synthetisieren, während α2-Ketten weder im Kulturmedium noch in Zellextrakten nachgewiesen werden konnten.
Es wird vermutet, daß die Störung der Kollagenbiosynthese mit den klinischen und röntgenologischen Befunden der Erkrankung in Verbindung steht.
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Meigel, W.N., Müller, P.K., Pontz, B.F. et al. A constitutional disorder of connective tissue suggesting a defect in collagen biosynthesis. Klin Wochenschr 52, 906–912 (1974). https://doi.org/10.1007/BF01468935
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DOI: https://doi.org/10.1007/BF01468935