Awareness of the rare condition of Job syndrome is low among paediatricians, even among geneticists. However, the observation of recurrent fractures among a majority of such cases can result in misdiagnosis of non-accidental injury (NAI) 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 to Court in such circumstances.
- Job syndrome
- non-accidental injury