Article

A novel de novo MECOM frameshift variant presenting with early fetal edema and cardiac anomalies: a case report with literature review

2026-06-17

Abstract excerpt

<title>Abstract</title> <p> Background Germline pathogenic variants in <italic>MECOM</italic> are associated with a rare multisystem disorder traditionally characterized by radioulnar synostosis, thrombocytopenia, and bone marrow failure. However, prenatal presentations remain poorly defined. Case presentation: We report a fetus with severe abnormalities detected at 13 <sup>+</sup> weeks of gestation. Ultr...

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Literature Corpus work: aacb08ab-2221-55ca-b983-4932d47abb88
DOI: 10.21203/rs.3.rs-9661191/v1

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