Diaphragmatic hernia in Denys-Drash syndrome

We report on a newborn infant with male pseudohermaphroditism and glomerular lesions (Denys‐Drash syndrome) but without Wilms tumor. A constitutional heterozygous mutation in the WT1 gene (366Arg to His) was identified. In addition the child had a large diaphragmatic hernia, so far not described in Denys‐Drash syndrome. The expression of the WT1 gene in pleural and abdominal mesothelium and the occurrence of diaphragmatic hernia in transgenic mice with a homozygous WT1 deletion strongly suggests that the diaphragmatic hernia in this patient is part of the malformation pattern caused by WT1 mutations. © 1995 Wiley‐Liss, Inc.