Fanconi anemia MRI

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shyam Patel [2]

Overview

There are no specific MRI findings in Fanconi anemia. However, certain anatomic defects associated with Fanconi anemia can be visualized with MRI.

MRI findings

There are no specific magnetic resonance imaging (MRI) findings in Fanconi anemia. However, certain anatomic defects associated with Fanconi anemia can be visualized with MRI. For example, thumb anomalies and cardiac anomalies may be visualized by MRI. MRI is generally the preferred diagnostic test of choice over CT as MRI can visualize soft tissue defects. It is also the test of choice for visualization of central nervous system (CNS) abnormalities. CNS MRI is indicated to identify any structural defects, such as absence of the corpus callosum, small pituitary, or cerebellar hypoplasia.[1]

References

  1. Auerbach AD (2009). "Fanconi anemia and its diagnosis". Mutat Res. 668 (1–2): 4–10. doi:10.1016/j.mrfmmm.2009.01.013. PMC 2742943. PMID 19622403.

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