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Genotype-Phenotype Correlations, Treatment, and Prognosis of Children With Early-Onset (Neonatal) Marfan Syndrome.

Clinical genetics - 1 Aug 2025

van der Leest Eva C, van der Hulst Annelies E, Pals Gerard, Zhytnik Lidiia, Lai Lillian, Jacquemart Caroline, Mills Lindsay, Houben Michiel, Jira Petr, Lunshof Bert L, Warnink-Kavelaars Jessica, de Waard Vivian, Menke Leonie A

Abstract excerpt

Early-onset Marfan syndrome (eoMFS) is a severe and rare form of Marfan syndrome characterized by severe atrioventricular valve insufficiency developing before or shortly after birth. It is unclear which factors (interventions and/or genotype) influence survival. Forty-one individuals with eoMFS with a fibrillin-1 gene (FBN1) variant in exon 24-32 (CRCh37) were included. At the last follow-up, 14/41 (34%) were...

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Identifiers

PMID: 40065510
DOI: 10.1111/cge.14722
PMCID: PMC12215293

Genes

EGF
FBN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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