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Late Preterm Infant Diagnosed with Thrombocytopenia Absent Radius Syndrome
oleh: Övgü Büke, Sultan Bent, Tuğçe Damla Türkpençe, Şahin Hamilçıkan, Emrah Can
Format: | Article |
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Diterbitkan: | Galenos Yayinevi 2017-06-01 |
Deskripsi
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.