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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| Main Authors: | , , , , , , , , |
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| Format: | Book |
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BMC,
2024-09-01T00:00:00Z.
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