Thrombocytopenia and Absent Radii Syndrome with Tetralogy of Fallot and Hypothyroidism

Abstract

AbstractThrombocytopenia and absent radii (TAR) syndrome is a rare genetic disorder characterized by congenital absence of both radii, presence of both the thumbs, and severe thrombocytopenia which resolves spontaneously in childhood. The incidence is 0.5 to 1 per 100,000 live births and this syndrome may be associated with anomalies of other organs like gastrointestinal (milk protein allergy), genitourinary, cerebral, cardiac, renal, and so forth. Involvement of endocrine system is not reported in the literature. We describe a case of TAR syndrome with tetralogy of Fallot and newly diagnosed hypothyroidism.