A Case of FBN1 -Related Early Onset Marfan Syndrome with Multi-Suture Craniosynostosis

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 findings—primarily arachnodactyly, multiple joint contractures, and pectus deformity. Craniosynostosis has been reported in rare cases of eoMFS, but not in association with the c.3037G>A, p.Gly1013Arg variant in FBN1 . Here we present a case of a 2-month-old male with bilateral lambdoidal and sagittal craniosynostosis diagnosed with eoMFS after genome sequencing identified a de novo pathogenic variant in FBN1, c.3037G>A, p.Gly1013Arg.