Skeletal and Non-skeletal Phenotypes in Children with Osteogenesis Imperfecta

Although fractures are the defining characteristic of osteogenesis imperfecta (OI), the disorder affects many tissues. Here we discuss three facets of the OI phenotype, skeletal growth and development, skeletal muscle weakness and the dental and craniofacial characteristics. Short stature is almost universal in the more severe forms of OI and is probably caused by a combination of direct effects of the underlying genetic defect on growth plates and indirect effects of fractures, bone deformities and scoliosis. Recent studies have developed OI type-specific growth curves, which allow determining whether a given child with OI grows as expected for OI type. Impaired muscle function is an important OI-related phenotype in severe OI. Muscles may be directly affected in OI by collagen type I abnormalities in muscle connective tissue and in the muscle-tendon unit. Indirect effects like bone deformities and lack of physical activity may also contribute to low muscle mass and function. Dental and craniofacial abnormalities are also very common in severe OI and include abnormal tooth structure (dentinogenesis imperfecta), malocclusion, and deformities in the bones of the face and the skull. It is hoped that future treatment approaches will address these OI-related phenotypes.