Osteogenesis imperfecta is characterised by bone fragility leading to fracture and bone
deformity, chronic bone pain and reduced mobility. Presentation in infancy may be
anticipated through shortened or bowed femurs on antenatal ultrasound scanning, or
because of family history. Other conditions can present in the neonatal period with
osteoporosis and fractures, but clinical features should allow differentiation. Management is
multidisciplinary, with the mainstay of medical intervention being the use of …