The most troublesome differential diagnosis is between nonaccidental injuries and osteogenesis imperfecta (OI).
OI is protean in its manifestations and in 1979, Sillence classified five types, based on clinical and radiological features. This classification has since been modified in the light of further genetic data.
- Van Dijk FS, Pals G, Van Rijn RR, et al. Classification of Osteogenesis Imperfecta revisited. Eur J Med Genet. 2010 Jan-Feb;53(1):1-5.
The classical blue sclera are not always present and the onset of fractures can be delayed. It is a difficult diagnosis to substantiate and is the province of specialist pediatricians and geneticists.
If a child presents with unexplained fractures and none of the risk factors for nonaccidental injuries is present, then OI has to be considered by appropriate experts.
In 1995, Roger Smith of Oxford stated “The distinction between NAI and osteogenesis imperfecta is a small and untidy corner of pediatrics. Osteogenesis imperfecta is rare and few people have extensive experience of it; the views of those who have should be taken into account, irrespective of their specialty. Where legally necessary biochemical confirmation of osteogenesis imperfecta should be sought.” ( Smith R. Osteogenesis imperfecta, non-accidental injury, and temporary brittle bone disease. Arch Dis Child. 1995 Feb;72(2):169-176.)