title: Vesicoureteric reflux associated with renal dysplasia in the Wolf-Hirschhorn syndrome.
abstract: 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.
authors.affiliation: Division of Nephrology, Hospital for Sick Children, Department of Pediatrics, University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1XH,Canada.
authors.forename: S
authors.initials: S
authors.lastname: Grisaru
authors.forename: I J
authors.initials: IJ
authors.lastname: Ramage
authors.forename: N D
authors.initials: ND
authors.lastname: Rosenblum
mesh_terms: D019066:Facies; D005260:Female; D006801:Humans; D007223:Infant; D007668:Kidney / Q000166:cytology / Q000000981:diagnostic imaging / Q000473:pathology*; D007674:Kidney Diseases / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology*; D010641:Phenotype; D014463:Ultrasonography; D014513:Ureter / Q000000981:diagnostic imaging / Q000473:pathology*; D014718:Vesico-Ureteral Reflux / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology*