radiological features of the brittle bone diseases

Abstract

this paper describes some radiological features of osteogenesis imperfecta and temporary brittle bone disease. both conditions cause fractures in early childhood that the parents cannot explain. they can underlie the finding of unsuspected fractures when x-rays are done for other reasons, including fractures of different ages. both can readily be confused with non-accidental injury.

in these disorders any type of fracture can occur; no fracture pattern makes bone disease more or less likely. metaphyseal fractures, often regarded as specific for non-accidental injury, also have a wide range of other causes including several bone diseases. osteopenia cannot be reliably used in diagnosis, not least because it can be absent in some bone diseases such as osteogenesis imperfecta. wormian bones, if present in excess, are a valuable pointer to osteogenesis imperfecta but their absence does not eliminate this diagnosis.

there is growing evidence for the identification of temporary brittle bone disease as a distinctive disorder with its own characteristic clinical and radiological findings.