Publication:

Thrombocytopenia absent radii syndrome in a twenty five day old female neonate: a case report

Thrombocytopenia absent radii (TAR) is a rare genetic disorder associated with multiple additional anomalies. We report a case of a 25 day old female neonate with thrombocytopenia and bilateral absent radii with flexion of the elbow joint and radial deviation of the wrist joint. TAR, although rare are not uncommon. Thus, we have presented a 25 day old neonate with radiological features of absent radii and fluctuating platelet counts that subsequently showed thrombocytopenia that warranted the diagnosis of TAR syndrome in this case.