Neonatal marfan syndrome due to missense mutation in exon 26 of fbn1 gene

• Auteurs principaux: Hitesh Patel (Auteur), Seema Balasubramaniam (Auteur)
• Format: Livre
• Publié: Wolters Kluwer Medknow Publications, 2021-01-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

Background: Neonatal Marfan syndrome (MFS) lies at the most severe end of the MFS clinical spectrum, sharing some characteristics of MFS, but with a more severe clinical phenotype, slightly variable genotype, and a poor prognosis. We report a case of neonatal MFS diagnosed antenatally and in whom di...