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Abstract
The MECOM-associated syndrome encompasses a spectrum of hematologic and skeletal abnormalities, with severe bone marrow failure being one of its main manifestations. The case of a seven-month-old male infant, presenting at two months of age with severe pancytopenia, is described. Bone marrow studies revealed hypocellularity with poor hematopoietic representation and hypolobulated megakaryocytes, with a normal karyotype (46,XY). Clinical exome sequencing identified a novel heterozygous variant in the MECOM gene, classified as likely pathogenic. Radiographs ruled out radioulnar synostosis or other skeletal abnormalities, thereby expanding the geno-phenotypic spectrum of MECOM variants.
Keywords: MECOM, bone marrow failure, pancytopenia, aplastic anemia.
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