Although we are the first to report on the co-occurrence of CDH and craniosynostosis in a patient with a BCL11B missense mutation, the co-occurrence of CDH and craniosynostosis has been described previously for several syndromes, such as Apert's syndrome and craniofrontonasal syndrome (7–22). The gene discussed is BCL11B; the disease is congenital diaphragmatic hernia.