This information on specific clinical and etiologic factors associated with prognosis can help clinicians and parents in the complex discussions about care planning and management that often occur in a crisis situation, following the diagnosis of CDH, whether prior or after delivery. Birth Defects Research 109:1451-1459, 2017.© 2017 Wiley Periodicals, Inc.

Somatic variants are not common in CDH. To our knowledge, this is the second case of a germline de novo frameshift mutation in NR2F2 in CDH. Since NR2F2 null mice exhibit a diaphragmatic defect, and XIRP2 is implicated in cardiac development, our data suggest the role of these two variants in the etiology of CDH, and possibly cardiac anomalies.