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Marfan syndrome is named after Antoine Marfan, [11] the French pediatrician who first described the condition in 1896 after noticing striking features in a five-year-old girl. [ 12 ] [ 77 ] The gene linked to the disease was first identified by Francesco Ramirez at the Mount Sinai Medical Center in New York City in 1991.
Antoine Bernard-Jean Marfan (French pronunciation: [ɑ̃twan bɛʁnaʁ ʒɑ̃ maʁfɑ̃]; June 23, 1858 – February 11, 1942) was a French paediatrician. He was born in Castelnaudary (département Aude , Languedoc-Roussillon ) to Antoine Prosper Marfan and Adélaïde Thuries. [ 1 ]
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The Foundation provides information about Marfan syndrome and funds research for the purposes of saving lives and improving the quality of life for people affected by the condition which is a genetic connective tissue disorder. The Foundation also lobbies Congress to fund Marfan syndrome research and engages in its own fundraising activities. [1]
Dolichonychia is a medical condition in which the nail beds of the fingers and toes are abnormally long and slender, specifically, a finger nail index of 1.30 or more, [1] it is a common feature in people with connective tissue disorders, such as Ehlers–Danlos syndromes, Marfan syndrome, and hypohidrotic ectodermal dysplasia., [2] it often appears alongside arachnodactyly and/or ...
Schiavelli was honorary co-chair of the National Marfan Foundation, an organization that serves those affected by Marfan syndrome, a condition that Schiavelli had. [4] Schiavelli also performed in a few video games, including Emperor: Battle for Dune (as Harkonnen Mentat Yanich Kobal) and as Dr. Hellman in the video game Corpse Killer.
It remains unconfirmed whether composer Sergei Rachmaninoff's abnormally large reach on a piano was a result of arachnodactyly due to Marfan syndrome, as the pianist exhibited no other signs of the disease. [6]
Dennie–Marfan syndrome is a syndrome in which there is association of spastic paraplegia of the lower limbs and mental retardation in children with congenital syphilis. [1] Both sexes are affected, and the onset of the disease can be acute or insidious, with slow progression from weakness to quadriplegia .