Varying severity of the course of the neonatal form of Marfan syndrome: genotype/phenotype correlation.

Abstract

Authors’ two own clinical case observations described in the Article, whose comparison demonstrates the relationship of a more severe phenotype of the neonatal form of Marfan syndrome in a child with a missense variant and a patient with a splicing site variant. Both cases contribute to the genotype/phenotype correlations studied earlier and also indicate a greater severity of the course of the neonatal form of Marfan syndrome with missense variants.