OSTEOGENESIS IMPERFECTA IN CHILDHOOD AND ADOLESCENCE

Background: 209 patients with osteogenesis imperfecta type I, III and IV were studied to provide data on the natural course of the disease u ntil 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 featur es were - besides osteopenia - Wormian bones of the skull, pseudoarthr oses, deformity of the pelvis, popcorn epiphyses (most frequent in typ e III) and hyperplastic callus (most frequent in type IV). Longitudina l growth of patients with type I was in the lower normal range, while patients with type III and IV developed marked growth deficiency. Moto r performance was not severely impaired in most cases of type I; howev er, all type III patients and 71% of type IV patients were confined to a wheelchair in later life. Conclusion: As defined, type I patients h ad a mild clinical course until early adulthood. Type III and IV repre sented a spectrum of severely affected patients. Although type IV pati ents were less affected at birth, their postnatal course in some respe cts resembled that of type III.