[Thrombocytopenia-absent radius - TAR-syndrome].

Abstract

Thrombocytopenia-absent radius - TAR-syndrome is a rare condition in which thrombocytopenia is associated with bilateral radial aplasia. TAR syndrome was first described in 1956 by H. Cross et al. An autosomal recessive inheritance pattern was proposed because TAR affected more than one member of some families. The disease varies and includes abnormalities in the skeletal, hematological, cardiac, gastrointestinal and other systems. In article the 30 day infant with thrombocytopenia-absent radius - TAR-syndrome is described. The diagnose was confirmed by clinical, laboratory, radiological, genetic etc. investigations.