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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.
Dural ectasia is common in Marfan syndrome, [3] occurring in 63–92% of people with the syndrome. [11] It may also occur in Ehlers-Danlos Syndrome , neurofibromatosis type I , [ 12 ] ankylosing spondylitis , [ 1 ] and is associated with spondylolisthesis , vertebral fractures, [ 13 ] scoliosis , tumors or trauma .
[6] [7] [8] A spontaneous spinal cerebrospinal fluid leak may occur sometimes in those with predisposing heritable connective tissue disorders including Marfan syndrome and Ehlers–Danlos syndromes. [ 5 ] [ 9 ] A loss of CSF greater than its rate of production leads to a decreased volume inside the skull known as intracranial hypotension .
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]
Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid fibrillinopathy, is an extremely rare medical condition which manifests as a variety of symptoms including those usually associated with Marfan syndrome, an appearance resembling that seen in neonatal progeroid syndrome (NPS; also known as Wiedemann–Rautenstrauch syndrome ...
When Jemma's condition suddenly deteriorated, her parents, Diane and Tony, rushed her to a hospital near her home in Wigan. There, Jemma was correctly diagnosed with Toxic Shock Syndrome (TSS). A ...
Marfan syndrome This page was last edited on 7 December 2024, at 09:29 (UTC). Text is available under the Creative Commons Attribution-ShareAlike 4.0 License ...
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