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Article

Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature.

Italian journal of pediatrics - 18 Sept 2024

Pugnaloni Flaminia, De Rose Domenico Umberto, Digilio Maria Cristina, Magliozzi Monia, Braguglia Annabella, Valfrè Laura, Toscano Alessandra, Dotta Andrea, Di Pede Alessandra

Abstract excerpt

BACKGROUND: Neonatal Marfan syndrome (nMFS) is a rare condition characterized by severe phenotype and poor prognosis. nMFS is caused by mutations in a specific region of the fibrillin 1 gene (FBN1). Prompt recognition of typical signs of neonatal presentation, such as characteristic facial anomalies with senile appearance, arthrogryposis, and campto-arachnodactyly, is fundamental for performing an early...

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Identifiers

PMID: 39294662
DOI: 10.1186/s13052-024-01756-0
PMCID: PMC11411867

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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