Unexplained fractures in infancy: looking for fragile bones

Clinical history and examination supplemented by radiology are currently the mainstays of detection of bone disease in infants presenting with one or more unexplained fractures. Osteogenesis imperfecta and prematurity are the commonest established causes of bone fragility leading to fracture in infancy, but these are infrequent compared with non-accidental injury. Mutations in LRP5 are associated with both eye disease and fractures, but the extent to which such mutations contribute to unexplained fractures in infancy is entirely unclear. The role of genetic testing in discriminating bone disease from non-accidental injury in infants with unexplained fractures still needs to be properly evaluated in an appropriate population-based study.