Tar syndrome (thrombocytopenia absent radius syndrome) 1

General: Bilateral absence of the radius and hypomegakaryocytic thrombocytopenia. 626c22g

Ocular: May have cataracts, glaucoma, megalocornea, and blue sclera.

Clinical: Patients have foreshortened forearms and radially deviated hands; infrequently associated with mental retardation (7%); also may have lower extremity deformity.

Gounder DS, et al. Clinical manifestations of the thrombocytopenia and absent radii (TAR) syndrome. Aust N Z J Med 1989; 19:479-482.

MacDonald MR, et al. Hypoplasia of the cerebellar vermis and corpus callosum in thrombocytopenia with absent radius syndrome on MR1 studies. Am J Med Genet 1994; 50:46-50.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12^th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.