[Collagen analysis in fibroblasts in osteogenesis imperfecta. Clinical benefits]

We performed collagen analysis in 38 patients with osteogenesis imperfecta. In order to assess the clinical benefit of the analysis, all cases were studied retrospectively. Five patients were children with lethal osteogenesis imperfecta, in whom the diagnosis was confirmed after termination of pregnancy. In the remaining 33 patients, collagen analysis was performed because of clinical suspicion of osteogenesis imperfecta. Child abuse was suspected in seven patients. We found good correlation between the results of collagen analysis and the final diagnoses, which were based on clinical information and observation over time. In this study we also tested a set of diagnostic criteria which seem to be useful in clinical practice. The collagen analysis was of decisive diagnostic value in half (16/33) of the patients, but also in the remaining patients the clinical diagnosis was strengthened. We obtained only one false negative result. Our study indicates that in selected patients where diagnosis is difficult, collagen analysis can be an important tool in establishing the diagnosis osteogenesis imperfecta.