Osteogenesis Imperfecta Diagnosed in Utero

Abstract

A sporadic case of osteogenesis imperfecta diagnosed in utero is presented, following a short survey of the available literature. The clinical and radiological characteristics are described and the histopathology and pathogenesis of the condition are indicated. Careful scrutiny of the antenatal radiographs is essential to elicit the diagnostic features of: poor skeletal calcification, numerous fractures, and short, deformed limb bones.