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

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

Abstract 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 a...

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Bibliographic Details
Main Authors: Flaminia Pugnaloni, Domenico Umberto De Rose, Maria Cristina Digilio, Monia Magliozzi, Annabella Braguglia, Laura Valfrè, Alessandra Toscano, Andrea Dotta, Alessandra Di Pede
Format: Article
Language:English
Published: BMC 2024-09-01
Series:Italian Journal of Pediatrics
Subjects:
Neonatal Marfan syndrome
Cardiac failure
Phenotype-genotype correlation
Clinical genetics
Case report
Online Access:https://doi.org/10.1186/s13052-024-01756-0

Internet

https://doi.org/10.1186/s13052-024-01756-0

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