[Prenatal diagnosis of osteogenesis imperfecta, type II, following AID]

Osteogenesis imperfecta is a severe disorder of skeletal formation with nonuniform mode of inheritance. Insufficient bone formation in severe cases (Type II and III) leads to spontaneous intrauterine fractures with shortening of the extremities and thoracic deformities. Sonographical, radiological, pathological-anatomical and clinical data are presented and discussed in a case which was diagnosed at the 19. week of pregnancy.