A Case of FBN1-Related Early Onset Marfan Syndrome with Multi-Suture Craniosynostosis
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Early-onset Marfan Syndrome (eoMFS) is caused by pathogenic variants in the fibrillin-1 (FBN1) gene. Typical clinical findings include a prematurely aged appearance, severe atrioventricular valve dysfunction (mitral/tricuspid valve insufficiency), and skeletal... ...
