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The most serious signs and symptoms associated with Marfan syndrome involve the cardiovascular system: undue fatigue, shortness of breath, heart palpitations, racing heartbeats, or chest pain radiating to the back, shoulder, or arm. Cold arms, hands, and feet can also be linked to MFS because of inadequate circulation.
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 .
This is known as cystic medial necrosis and is most commonly associated with Marfan syndrome and is also associated with Ehlers-Danlos syndrome. [28] [29] In about 13% of aortic dissections, no evidence of an intimal tear is found. In these cases, the inciting event is thought to be an intramural hematoma (caused by bleeding within the media).
1 Signs and symptoms. 2 Genetics. 3 Diagnosis. 4 ... There is an association between familial thoracic aortic aneurysm and Marfan syndrome as well as other hereditary ...
Marfanoid (or Marfanoid habitus) is a constellation of signs resembling those of Marfan syndrome, including long limbs, with an arm span that is at least 1.03 of the height of the individual, and a crowded oral maxilla, sometimes with a high arch in the palate, arachnodactyly, and hyperlaxity.
Marfan syndrome Lincoln sign is the medical sign consisting of excessive popliteal artery pulsation due to hemodynamic effects of aortic regurgitation . [ 1 ] This sign is associated with Marfan syndrome , in which aortic root dilation and aortic incompetence are common features.
Other conditions sometimes causally associated with Chiari malformation include hydrocephalus, [49] syringomyelia, spinal curvature, tethered spinal cord syndrome, and connective tissue disorders [42] such as Ehlers–Danlos syndrome [50] and Marfan syndrome. Chiari malformation is the most frequently used term for this set of conditions.
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 ...