Neonatal Marfan syndrome caused by an exon 25 mutation of the Fibrillin-1 gene: 
We describe a male infant with severe arachnodactyly, hypermobility of the 
fingers, flexion contractures of elbows, wrists, hips, and knees, 
microretrognathia, crumpled ears, rockerbottom feet, loose redundant skin, and 
lens dislocations. Cardiac valve insufficiency and aortic dilatation resulted in 
cardiac failure, decompensated with digitalisation and death occurred at the age 
of 4 months. This case represents the severe end of the clinical spectrum of 
Marfan syndrome, namely neonatal Marfan syndrome. Molecular diagnostic analyses 
confirmed a de novo exon 25 mutation in the FBN1 gene.