Simple ultrasonic diagnosis of osteogenesis imperfecta type II in early second trimester.

Osteogenesis imperfecta (OI) Type II was diagnosed accurately in an at-risk fetus at 16 weeks gestation by real-time sonography. The most important findings were shortening, deformity and possibly fracture in the long bones particularly the femurs. Ultrasonic visualization of these signs in a fetus at risk will provide direct evidence in the diagnosis of OI Type II and any additional investigations are not indicated.