Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency.
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.
Buntinx
I M
IM
Department of Medical Genetics, University of Antwerp UIA, Universiteitsplein, Belgium.
Willems
P J
PJ
Spitaels
S E
SE
Van Reempst
P J
PJ
De Paepe
A M
AM
Dumon
J E
JE
D003286:Contracture / Q000150:complications / Q000151:congenital* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics* / Q000473:pathology; D008944:Mitral Valve Insufficiency / Q000150:complications / Q000151:congenital* / Q000473:pathology; D009154:Mutation; D010808:Physical Examination; D014262:Tricuspid Valve Insufficiency / Q000150:complications / Q000151:congenital* / Q000473:pathology