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The association of bone marrow failure and skeletal defects is well known. However, the genetic basis for most of these syndromes remains unclear. We describe here a syndrome of congenital amegakaryocytic thrombocytopenia (CAMT) with skeletal abnormality. This case report summarizes the clinical presentation of an infant with anemia and thrombocytopenia in which the basic work up has led to the diagnosis of ATRUS.
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