Osteogenesis imperfecta: a review.

Abstract

The wide spectra of the clinical features, classification, genetics and imaging features of osteogenesis imperfecta (OI) are discussed, especially 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 radiologists to knowledgeably provide the proper diagnosis and to participate responsibly in a team approach with geneticists, clinicians, lawyers and child protection services. There are 4 major types of OI, ranging from mild to severe. The diagnosis is made from clinical, genetic and radiographic features. The complications of OI and the use of bone mineral density measurements, collagen analysis and prenatal ultrasonography are presented. Their clinical relevance to the diagnosis of OI are discussed. Skin biopsy for collagen analysis may be needed to aid in the diagnosis in confusing or mild cases. It is important to distinguish OI from child abuse in order to protect an abused child or to avoid an improper accusation of child abuse in a child with obvious OI.