OSTEOGENESIS IMPERFECTA - A REVIEW

The wide spectra of the clinical features, classification, genetics an d imaging features of osteogenesis imperfecta (OI) are discussed, espe cially in the context of distinguishing the condition from child abuse . A broad general knowledge of the clinical and genetic aspects of the disease, as well as the imaging features of OI, is required for radio logists to knowledgeably provide the proper diagnosis and to participa te responsibly in a team approach with geneticists, clinicians, lawyer s and child protection services. There are 4 major types of OI, rangin g from mild to severe. The diagnosis is made from clinical, genetic an d radiographic features. The complications of OI and the use of bone m ineral density measurements, collagen analysis and prenatal ultrasonog raphy are presented. Their clinical relevance to the diagnosis of OI a re discussed. Skin biopsy for collagen analysis may be needed to aid i n the diagnosis in confusing or mild cases. It is important to disting uish OI from child abuse in order to protect an abused child or to avo id an improper accusation of child abuse in a child with obvious OI.