A newborn with multiple fractures

Sometimes newborns with multiple fractures are diagnosed as osteogenesis imperfecta in spite of absence of radiographic findings supporting this diagnosis. A newborn with multiple fractures was diagnosed as osteogenesis imperfecta. Analysis of the structure of the long bones, pattern of fractures and poorly developed muscles suggested the diagnosis of fetal akinesia deformation syndrome. This was confirmed by pregnancy history and clinical findings. Multiple fractures in a newborn may present with diagnostic radiographic features as in osteogenesis imperfecta, or as in lethal gracile bone dysplasias or achondrogenesis type IA. If those features are absent, other diseases should be considered. Radiographs should be compared with pregnancy history and clinical findings in the newborn. (authors)