Imaging spectrum of osteogenesis imperfecta – Pictorial essay

Abstract

Osteogenesis imperfecta (OI) is a rare genetic disorder caused by the disturbance in the synthesis of Type I Collagen and is divided into several types. Severe form of OI, mainly type II can be diagnosed in utero by ultrasonography during the second trimester of pregnancy. All the other types viz. Type I to Type VIII are diagnosed by conventional radiography. Many authors have classified these into several types. This essay is not meant for a comprehensive review of these types. The main features include fractures, gracile bones, kypho scoliosis, deformities, and wormian bones in skull. These radiologic features are described pictorially.

Keywords

• osteogenesis imperfecta
• fragile bones
• multiple fractures
• osteopenia
• pseudoarthrosis
• wormian bones
• hyperplastic callus