Denys–Drash Syndrome and Congenital Diaphragmatic Hernia: Another Case with the 1097G > A(Arg366His) Mutation

Congenital diaphragmatic hernia (CDH) is a disorder of the development of the lung and diaphragm and is associated with pulmonary hypoplasia and pulmonary hypertension. Denys–Drash syndrome (DDS) is a well‐known syndrome caused by several different germline mutations in the WT1‐gene. CDH in DDS is rare. We present the third case of CDH with clinical features of DDS and the same, rare Arg366His mutation in the WT1‐gene, as reported in the other two known cases. This report provides additional evidence that WT1 mutations can result in diaphragmatic hernia. © 2008 Wiley‐Liss, Inc.