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

• Main Authors: Hitesh Patel (Author), Seema Balasubramaniam (Author)
• Format: Bog
• Udgivet: Wolters Kluwer Medknow Publications, 2021-01-01T00:00:00Z.
• Fag: article
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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...