OSTEOGENESIS IMPERFECTA IN KINDHEIT UND ADOLESZENZ

Background: 209 patients with osteogenesis imperfecta type I, III and IV were studied to provide data on the natural course of the disease until the end of the second decade. Results: Weight and length at birth were normal in most cases of type I and IV, markedly reduced in type III. Fractures and deformities at birth were most frequent in type III. High fracture rates occurred in type III and IV up to 8-10 years of age. Skeletal deformities developed primarily in the lower extremities and the spine, again most frequently in type III. Radiological features were - besides osteopenia - Wormian bones of the skull, pseudoarthroses, deformity of the pelvis, popcorn epiphyses (most frequent in type III) and hyperplastic callus (most frequent in type IV). Longitudinal growth of patients with type I was in the lower normal range, while patients with type III and IV developed marked growth deficiency. Motor performance was not severely impaired in most cases of type I; however, all type III patients and 71% of type IV patients were confined to a wheelchair in later life. Conclusion: As defined, type I patients had a mild clinical course until early adulthood. Type III and IV represented a spectrum of severely affected patients. Although type IV patients were less affected at birth, their postnatal course in some respects resembled that of type III.