Abstract

Awareness of the rare condition of Job syndrome is low among both paediatricians and geneticists. Consequently, observation of the recurrent fractures in the majority of such cases can result in misdiagnosis of non-accidental injury in young children who have the syndrome. The case we report here represents an example of this diagnostic pitfall, which deserves wide recognition due to the serious consequences for children, families and paediatricians acting as experts in legal actions in such circumstances.