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

Abstract

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.