Key result
A male neonate with severe Marfan syndrome presented with severe cardiac valve insufficiency and aortic dilatation, resulting in cardiac failure and death 20 hours after birth.
Case Report (n=1)
This case highlights the severe end of the clinical spectrum of neonatal Marfan syndrome, characterized by rapid progression to cardiac failure and death.
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May inform prognostic counseling in suspected neonatal Marfan syndrome; hypothesis-generating and requires confirmation in larger cohorts.
We describe a male neonate with severe arachnodactyly, hypermobility of the fingers, flexion contractures of elbows, wrists, hips, and knees, micrognathia, crumpled ears, rockerbottom feet, loose redundant skin, and ocular abnormalities. Severe cardiac valve insufficiency and aortic dilatation resulted in cardiac failure and death 20 hours after birth. This case represents the severe end of the clinical spectrum of Marfan syndrome. As similar patients have been reported, they may represent a separate mutation.
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Buntinx et al. (1991) conducted a case report in Neonatal Marfan syndrome (n=1). A male neonate with severe Marfan syndrome presented with severe cardiac valve insufficiency and aortic dilatation, resulting in cardiac failure and death 20 hours after birth.
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