Intrauterine bone fractures in fetuses with osteogenesis imperfecta: a literature review and a case report

Abstract

The article presents a literature review on intrauterine bone fractures in fetuses suffering from osteogenesis imperfecta. Prenatal ultrasound investigation of the condition is made to identify pathologically changed bone tissue including shortened and deformed limb segments and ribs, bone fractures and callus formation and widened intracranial sutures. Comprehensive clinical, paraclinical and radiological evaluations are produced after the birth to determine treatment strategy. Skeletal fractures in newborns are treated conservatively. With diagnosis of osteogenesis imperfect established medical treatment with bisphosphonates is administered to inhibit osteoclast-mediated bone resorption, facilitate bone mineralization and lower fracture incidence. The case report describes fractures of both femurs and left tibia in a female newborn suffering from osteogenesis imperfecta type III diagnosed in utero with ultrasonographic screening. The case presented highlights infant’s trauma-focused status, radiological findings and the treatment performed.