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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 .
[24] [43] Marfan syndrome, Ehlers–Danlos syndrome, and autosomal dominant polycystic kidney disease are the three most common connective tissue disorders associated with sCSFLs. [24] Roughly 20% of patients with a sCSFL exhibit features of Marfan syndrome, including tall stature, hollowed chest ( pectus excavatum ), joint hypermobility and ...
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.
It can be reduced (short, "narrow") in horizontal size by fetal alcohol syndrome [1] and in Williams syndrome.The chromosomal conditions trisomy 9 and trisomy 21 (Down syndrome) can cause the palpebral fissures to be upslanted, [2] whereas Marfan syndrome can cause a downslant. [3]
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.
Dolichocephaly can sometimes be a symptom of Sensenbrenner syndrome, Crouzon syndrome, Sotos syndrome, [2] CMFTD [3] and Marfan syndrome. However, it also occurs non-pathologically as a result of normal variation between human populations.