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Updated: Jun 19, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
Published on: November 4, 2025
A Case of FBN1-Related Early Onset Marfan Syndrome with Multi-Suture Craniosynostosis
Anna Soo Godfrey1, Denisse Garza1, Daniela Schweitzer1
1Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Abstract:
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.
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