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Neonatal Marfan Syndrome

Eleonora Tognato1, Anna Perona1, Angela Aronica1

  • 1Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy.

American Journal of Perinatology
|June 26, 2019
PubMed
Abstract

Insights

Early diagnosis of Marfan syndrome (MFS) in neonates is crucial. This case highlights the importance of a multidisciplinary approach for managing severe cardiovascular disease in infants with MFS.

Area of Science:

  • Genetics and Molecular Biology
  • Cardiology
  • Neonatology

Background:

  • Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder.
  • It results from pathogenic variants in the fibrillin-1 gene (FBN1).
  • MFS commonly involves skeletal, cardiac, and ocular systems.

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