versão On-line ISSN 1683-9803
Objective: Osteogenesis imperfecta (OI) is a group of hereditary genetic conditions of the connective tissue characterized by brittle bones and fractures. Osteogenesis imperfecta is classified as type I, II, III, IV, V, or VI. Types I and IV are subdivided by whether or not opalescent dentin is present, while Type II is divided into three subgroups depending on radiological findings. The combined prevalence for all types is 0.5 for every 10,000 live births. OI are caused by mutations in two genes that code the 1 type collagen chain COL1A1, which is located on chromosome 17, and the COL1A2, located on chromosome 7. The type inherited varies according to type and subtypes of OI, and the severity may also be quite variable, even within a single family, with some individuals experiencing multiple fractures while others have no fractures at all. Some associated characteristics include blue sclerae, opalescent teeth, hypoacusis, deformity of the long bones and spinal column, and hyperextensibility or dislocation of joints. OI can be diagnosed prenatally by ultrasound, and if the mutation is known in advance, by testing the chorionic villi or amniotic fluid using techniques of molecular biology, which have a high confidence level. There have been many advances in the diagnosis and treatment of OI in recent years, for which reason this review of the clinical characteristics, classifications, types of heredity, diagnosis, management and treatment of osteogenesis imperfecta is presented.
Palavras-chave : osteogenesis imperfecta; fracture; collagen; mutation.