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

• Główni autorzy: Flaminia Pugnaloni (Autor), Domenico Umberto De Rose (Autor), Maria Cristina Digilio (Autor), Monia Magliozzi (Autor), Annabella Braguglia (Autor), Laura Valfrè (Autor), Alessandra Toscano (Autor), Andrea Dotta (Autor), Alessandra Di Pede (Autor)
• Format: Książka
• Wydane: BMC, 2024-09-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

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...