Amegakaryocytic thrombocytopenia with absent radii TAR syndrome

• Usually diagnosed at birth because of lower arm deformity due to bilateral radial aplasia.

• No hyperpigmentation.

.rg • Isolated thrombocytopenia with other cell lines normal.

• Bone marrow lacks megakaryocytes; has adequate WBC/RBC precursors.

• No chromosomal breaks in cell culture.

• Autosomal recessive; no gene yet identified.

• Thrombopoietin 4; platelets gradually increase as child grows.

• Bleeding problems greatest in infancy.

• Supportive therapy only needed.

Outlook

Usually good, with problems receding as childhood proceeds. Occasional patients continue to have problems with 5 platelets. No 4 malignancy.

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