In previous studies, recurrent deletions of 15q25.2 (on which, the RPS17 gene is located) have been associated with increased risk of CDH and cognitive deficits, with or without other features of DBA.[10,11] However, there is no recorded case of both Bochdalek hernia and DBA having occurred simultaneously. The gene discussed is RPS17; the disease is Diamond-Blackfan anemia.