Late Preterm Infant Diagnosed with Thrombocytopenia Absent Radius Syndrome
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 ser...
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| Main Authors: | , , , , |
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| Format: | Book |
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Galenos Yayinevi,
2017-06-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | 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. |
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| Item Description: | 10.4274/jpr.57070 2147-9445 |