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

Bradshaw, A. ; Donnelly, L. F. ; Foreman, J. W.
Springer
Published 2000
ISSN:
1432-198X
Keywords:
Key words Congenital malformations ; Thrombocytopenia ; Horseshoe kidney ; TAR syndrome
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL: