Vesicoureteric reflux associated with renal dysplasia in the Wolf-Hirschhorn syndrome

Wolf-Hirschhorn syndrome (WHS) is caused by a partial deletion of the short arm of chromosome 4 (4p16.3) and is characterized by severe pre- and postnatal growth retardation, developmental delay, and multiple congenital anomalies, including malformations of the urogenital system. We describe the renal and urinary tract phenotype in a series of six children with WHS. Vesicoureteric reflux was present in four of our six patients (5 of 10 ureters), an abnormality not previously reported in WHS.