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Today, cardiovascular symptoms of Marfan syndrome are still the most significant issues in diagnosis and management of the disease, but adequate prophylactic monitoring and prophylactic therapy offers something approaching a normal lifespan, and more manifestations of the disease are being discovered as more patients live longer. [75]
The etiology of dural ectasia is unknown, but it has been suggested that is due to increased hydrostatic pressure, [8] general weakened connective tissue [9] or as a result of the pulsatile flow of cerebrospinal fluid on weakened spinal dura. [10] Dural ectasia is common in Marfan syndrome, [3] occurring in 63–92% of people with the syndrome ...
They are differentiated from other meningeal and arachnoid cysts because they are innervated and diagnosis can in cases be demonstrated with subarachnoid communication. Tarlov perineural cysts have occasionally been observed in patients with Marfan syndrome, Ehlers–Danlos syndrome, and Loeys–Dietz syndrome. [5]
Rheumatic fever (RF), Marfan's syndrome and the Ehlers–Danlos syndromes are other typical causes. [6] Mitral valve stenosis (MVS) can sometimes be a cause of mitral regurgitation (MR) in the sense that a stenotic valve (calcified and with restricted range of movement) allows backflow (regurgitation) if it is too stiff and misshapen to close ...
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.
Playwright Jonathan Larson, best known for the musical Rent, died in 1996 of an aortic dissection believed to be due to undiagnosed Marfan Syndrome. Ritter Rules are a compilation of reminders, symptoms, and risk factors designed to prevent the misdiagnosis of thoracic aortic dissection. [54]
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 ...
Causes Mutations in the fibrillin-2 gene, in chromosome 5q23, or the fibrillin-1 gene, at chromosome 15q21.1 Arachnodactyly (" spider fingers ") is a medical condition that is characterized by fingers and toes that are abnormally long and slender, in comparison to the palm of the hand and arch of the foot.