Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.
Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature.
Revencu N, Quenum G, Detaille T, Verellen G, De Paepe A, Verellen-Dumoulin C. Eur J Pediatr. 2004;163(1):33-7.
We describe here a newborn male with many typical characteristics of neonatal Marfan syndrome associated with a diaphragmatic eventration and a bilateral uretero-hydronephrosis with bladder dilatation.
