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

Authors

Anna Soo Godfrey, Denisse Garza, Daniela Schweitzer, Christine Katie Thang

Published in

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association. Pages 10556656261461334. Jun 18, 2026. Epub Jun 18, 2026.

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.

PMID:
42312335
Bibliographic data and abstract were imported from PubMed on 18 Jun 2026.

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