Late Preterm Infant Diagnosed with Thrombocytopenia Absent Radius Syndrome

Abstract

Thrombocytopenia absent radius (TAR) syndrome is a rare genetic anomaly presenting with bilateral radial aplasia and thrombocytopenia. Pathophysiology is not fully understood. Patients may need to receive thrombocyte transfusions for better neurological outcome and frequent follow-up may prevent serious complications such as intracranial hemorrhage. Here we report a one-day-old late preterm neonate diagnosed with TAR syndrome by clinical and laboratory data, and confirmed by genetic studies.

Keywords

• Thrombocytopenia absent radius
• thrombocytopenia
• radius
• neonate
• preterm