title: Pelvic hypoplastic kidney in a patient with Williams-Beuren syndrome.
abstract: Renal and renovascular abnormalities constitute features of the Williams-Beuren syndrome (WBS), one multisystem genetic disorder in childhood, caused by a microdeletion of chromosome 7. We report a 12 years old boy who was diagnosed with WBS and had an ectopic pelvic hypoplastic left kidney, detected by ultrasonography and renal scintigraphy. Dystopic hypoplastic kidney is an infrequent finding in patients with WBS and our report showed the importance of a complete clinical and laboratory study of renal function in WBS.
authors.affiliation: Department of Nuclear Medicine, University Hospital of Heraklion, P.O. Box 1352, 71110 Heraklion Crete, Greece. mariast@cha.forthnet.gr
authors.forename: Maria
authors.initials: M
authors.lastname: Stathaki
authors.forename: Eleftheria
authors.initials: E
authors.lastname: Papadopoulou
authors.forename: Sophia
authors.initials: S
authors.lastname: Koukouraki
authors.forename: Stavros
authors.initials: S
authors.lastname: Sifakis
authors.forename: Emmanuela
authors.initials: E
authors.lastname: Papadaki
authors.forename: Maria
authors.initials: M
authors.lastname: Kalmanti
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Karkavitsas
mesh_terms: D002648:Child; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D004549:Elastin / Q000235:genetics; D006801:Humans; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging; D007674:Kidney Diseases / Q000175:diagnosis* / Q000235:genetics*; D007677:Kidney Function Tests; D008297:Male; D011877:Radionuclide Imaging; D014463:Ultrasonography; D018980:Williams Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics*
chemical_list: D004549:Elastin