Thrombocytopenia and absent radius (TAR) syndrome

Abstract

We give details of seven children with the TAR syndrome, Thrombocytopenia with absence of the radius. Two of the children were siblings. The TAR syndrome is characterised by hypomegakaryocytic thrombocytopenia and bilateral absence of the radius. It is inherited as an autosomal recessive trait.

Late Preterm Infant Diagnosed with Thrombocytopenia Absent Radius Syndrome

“…In the reported case, bilateral radii were absent and the hands were deviated toward ulna, but there was no finger abnormality. Abnormalities associated with the lower extremity in TAR syndrome are mild (5,7). In the reported patient, we did not observe pathological findings related to lower limbs, except laterally deviated halluces.…”

Reconstruction of Limb Deformities in Patients with Thrombocytopenia‐absent Radius Syndrome

“…The platelet counts are typically below 50 × 10 9 /L and can be low as <10 × 10 9 /L. The most common clinical presentations of the thrombocytopenia are gastrointestinal or intracerebral hemorrhage.…”

“…Lower limb abnormalities include hip dislocation, phocomelia, coxa valga, genu varum, subluxated knee, hypoplastic or absent patella and patellar dislocation. Additional deformities in connection with thrombocytopenia have been reported, including femoral and tibial torsion, abnormal tibiofibular joint, club foot deformity and abnormal toe placement, Mullerian agenesis, horseshoe kidney, oesophageal atresia and others. Hypoplasia or absence of the radius has been classified into four grades by Bayne and Klug.…”