Neonatal Marfan syndrome

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.

Arachnodactyly

Abnormally long and slender fingers (\"spider fingers\").

Total: 5

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PMID (PMCID)
14586646	MALE	Infant, Newborn
	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.
	Neonatal Marfan syndrome, the most severe presentation of Marfan syndrome phenotypes (MIM 154700), is characterised mainly by joint contractures, arachnodactyly, loose skin, crumpled ears, severe atrioventricular valve dysfunction and pulmonary emphysema.
15287423	MALE	Infant, Newborn
	Neonatal Marfan syndrome caused by an exon 25 mutation of the fibrillin-1 gene.
	Elcioglu NH, Akalin F, Elcioglu M, Comeglio P, Child AH. Genet Couns. 2004;15(2):219-25.
	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.
12413333	FEMALE	Infant, Newborn
	A recurring FBN1 gene mutation in neonatal Marfan syndrome.
	Jacobs AM, Toudjarska I, Racine A, Tsipouras P, Kilpatrick MW, Shanske A. Arch Pediatr Adolesc Med. 2002;156(11):1081-5.
	A newborn exhibited many typical characteristics of neonatal Marfan syndrome, including arachnodactyly; contractures of both elbows, knees, and ankles; small-joint laxity; dilated cardiomyopathy; valvular dysplasia and insufficiency; congestive heart failure; and pulmonary emphysema.
1856834	MALE	Infant, Newborn
	Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency.
	Buntinx IM, Willems PJ, Spitaels SE, Van Reempst PJ, De Paepe AM, Dumon JE. J Med Genet. 1991;28(4):267-73.
	Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency.
4093773	FEMALE	Infant, Newborn
	[Fatal Marfan syndrome in the neonatal period].
	Jalaguier J, Montoya F, Sarda P, Teot L, Bonnet H. J Genet Hum. 1985;33(5):435-44.
	Case-report of neonatal Marfan Syndrome with at birth the following observations: arachnodactyly, excessive length of arm, cardiac anomalies with hemodynamic troubles leading to death within 4 days.