The morbid anatomy of the skeleton in osteogenesis imperfecta

Abstract

Clinically, the two most prominent features of osteogenesis imperfecta are dwarfing and bone fragility. Radiologic examination reveals severe osteopenia with or without multiple deformities. Histological examination of samples obtained from 16 iliac crest biopsies compared with 21 age-matched controls revealed a significantly diminished amount of bone matrix without an associated decrease in the number of bone cells, suggesting a quantitative deficiency of collagen production. Radiologic studies of 46 affected children and autopsy studies of two children revealed abnormalities in the ossification of the secondary centers of ossification, together with evidence of fracture and fragmentation of the epiphyseal growth plates causing a characteristic radiologic appearance which may be likened to a bag of popcorn. These epiphyseal abnormalities may contribute to the limb shortening in some cases.