title: Thrombocytopenia and absent radii (TAR) syndrome associated with horseshoe kidney.
abstract: The TAR syndrome is an inherited disorder characterized by limb abnormalities, especially absent radii, and hypomegakaryocytic thrombocytopenia. Previous reports have included two infants with genitourinary abnormalities. We report a newborn with bilaterally absent radii and foreshortened ulnae, hypoplastic humeri, a left clubfoot, a ventricular septum defect, and persistent thrombocytopenia. This constellation of abnormalities is consistent with the TAR syndrome. In addition, he had a horseshoe kidney with parenchyma of normal appearance. This is the first report of horseshoe kidney in association with the TAR syndrome.
authors.affiliation: Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.
authors.forename: A
authors.initials: A
authors.lastname: Bradshaw
authors.forename: L F
authors.initials: LF
authors.lastname: Donnelly
authors.forename: J W
authors.initials: JW
authors.lastname: Foreman
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D005808:Genes, Recessive; D006801:Humans; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000503:physiopathology; D007677:Kidney Function Tests; D008297:Male; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome; D013921:Thrombocytopenia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D014463:Ultrasonography