INTRODUCCION

Marfan syndrome is a rare connective tissue disease that affects different structures, including skeleton, lungs,
eyes, heart and blood vessels.
It is characterized by an abnormal increase the length of the members. It is thought to affect one in 5,000
people and, unlike other genetic problems, does not adversely affect intelligence.
Marfan syndrome is named after Antoine Marfan. the French pediatrician who first described the condition in
1896. The gene linked to the disease was first identified by Hal Dietz and Francesco Ramirez in 1991.

The defective gene can be inherited, the children of a person with Marfan
syndrome have a 50% chance of inheriting the disease. Sometimes a new gene
occurs during the formation of defective sperm or egg (mutation), but two
parents who are affected have a one in 10,000 chance of having a child with
Marfan syndrome. It is estimated that 25% of cases are due to Marfan
spontaneous mutation at conception.
Neonatal Marfan: In prenatal echocardiography was detected cardiomegaly
with severe tricuspid regurgitation. When the birth occurs appreciate skeletal
abnormalities, skin and cardiovascular. Death occurs within hours or days due
to heart failure.
Marfan Childhood: cardiovascular lesions, predominantly aortic dilatation. It is
evident, moreover, that at the completion of maturation and the skeletal
phenotype, the majority of patients had cardiovascular compromise. Are seen
as manifestations of travel delay and learning disorders.
Marfan classic: is the most common, occurring in children, adolescents and
adults. Skeletal growth suffers a progressive increase with age and seems stuck
on reaching adolescence. Stresses uncontrolled size of the bones,
arachnodactyly, scoliosis, joint hypermobility, arched palate, dilated aortic
cardiovascular lesions, ocular lesions (retinal detachment, displacement of the
lens, cataract).