Literature DB >> 10654326

Thrombocytopenia and absent radii (TAR) syndrome associated with horseshoe kidney.

A Bradshaw1, L F Donnelly, J W Foreman.   

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.

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Year:  2000        PMID: 10654326     DOI: 10.1007/s004670050007

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN: 0931-041X            Impact factor:   3.714


  3 in total

1.  Thrombocytopenia-absent radius syndrome: a clinical genetic study.

Authors:  K L Greenhalgh; R T Howell; A Bottani; P J Ancliff; H G Brunner; C C Verschuuren-Bemelmans; E Vernon; K W Brown; R A Newbury-Ecob
Journal:  J Med Genet       Date:  2002-12       Impact factor: 6.318

2.  A rare association of crossed fused renal ectopia.

Authors:  Riaz Ahmad
Journal:  BMC Nephrol       Date:  2007-03-01       Impact factor: 2.388

3.  Thrombocytopenia With Absent Radii Syndrome With an Unusual Urological Pathology: A Case Report.

Authors:  Rebecca Farlett; Aarti Kulkarni; Bettina Thomas; Janardhan Mydam
Journal:  Cureus       Date:  2022-04-09
  3 in total

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