More information on our website: age2b.com/marf...
Antoine Marfan was a French pediatrician. He was the first person who, in 1896 described a connective tissue disorder associated with continuous and progressive skeletal abnormalities. This condition eventually was named Marfan syndrome, after Dr. Antoine Marfan.
Marfan syndrome is an autosomal dominant genetic disorder that affects the connective tissues of human body. Specific genetic mutations cause an increase in transforming growth factor beta, or TGF-β. As a result, abnormalities occur in the connective tissues.
The connective tissue disorders of people with Marfan syndrome are associated with certain physical characteristics and medical problems. Persons with Marfan syndrome usually have long arms and legs, long fingers and toes, flat feet, tall and thin body type, curved spine, abnormally shaped chest, and very flexible joints. The internal features of the disease are most often found in the heart, blood vessels, bones, joints, eyes, and lungs.
Marfan syndrome affects one out of every 5,000 people. People with Marfan syndrome may have children.If one parent has Marfan syndrome and the other parent does not, their probability of having a child with Marfan syndrome is 50%.
Marfan syndrome does not affect intelligence. Famous people with Marfan syndrome include Olympic medalist, Flo Hyman, American playwright, Jonathan Larson, former U.S. President, Abraham Lincoln, and Italian composer and violist, Niccolò Paganini.
26 сен 2024
