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Antoine Bernard-Jean, French pediatrician, 1858-1942. See: Marfan disease, Marfan law, Marfan syndrome.
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Marfan syndrome is a genetic connective tissue disorder with an incidence of roughly 1 in 5,000 and autosomal dominant inheritance, so the fetus of an affected mom has a 50% chance of having the disorder.
Dural ectasia is as a key characteristic of Marfan syndrome but may also be associated with Ehlers-Danlos syndrome, neurofibromatosis, ankylosing spondylitis and osteogenesis imperfecta tarda.[sup.1,2]
In patients with Marfan syndrome, surgery is usually performed when the ascending aorta exceeds 5 cm, and repair is undertaken in patients with Loeys-Dietz syndrome when the ascending aorta exceeds 4.5 cm.
Organiser Kris O'Neill, speaking from Golspie last night, said: "My brother has Marfan syndrome, a rare condition that affects his heart, lungs, eyes and connective tissues.
Mr O'Neill's younger brother, Liam, suffers from Marfan syndrome - a rare genetic disorder which affects the connective tissue around the body.
Around one in 5,000 people has Marfan syndrome: those who carry the gene have a 50% chance of passing it on.
But despite everything she has been cheered by the generosity of people who have supported her Facebook appeal for Marfan Trust which supports the diagnosis and treatment of Marfan syndrome patients.
Peter, from Barnes, Surrey, was born with Marfan syndrome - a connective tissue disease that caused his immense height.
The cardiovascular manifestations of Marfan syndrome are still a central issue in diagnosis and management, but prophylactic monitoring and therapies can give a nearly normal life expectancy for these patients.
Marfan syndrome is an autosomal dominant genetic disorder caused by misfolding of extracellular matrix protein, Fibrillin1 (Gene: FBN1).