Homocystinuria and Marfan’s Syndrome
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Marfan’s syndrome: an overview A síndrome de Marfan: uma revisão geral
Marfan’s syndrome is an autosomal dominant condition with an estimated prevalence of one in 10,000 to 20,000 individuals. This rare hereditary connective tissue disorder affects many parts of the body. The diagnosis of Marfan’s syndrome is established in accordance with a review of the diagnostic criteria, known as the Ghent nosology, through a comprehensive assessment largely based on a combin...
متن کاملFloating Lens In Marfan’s Syndrome: A Case Report
Marfan’s syndrome (MFS) is an autosomal dominant connective tissue disorder involving the cardiovascular, skeletal and ocular systems.Cardinal manifestations include aortic aneurysm and dissection, ocular lens dislocation and long bone overgrowth. The most common cause of ectopia lentis is trauma, which accounts for nearly onehalf of all cases of lens dislocation. A forward dislocation of the l...
متن کاملCASE STUDY Supraventricular Tachycardia vs. Marfan’s Syndrome
Marfan’s syndrome is one of several genetic connective tissue disorders that manifest cardiovascular abnormalities. Paroxysmal supraventricular tachycardia is not one of these manifestations. Address: Nationwide Insurance Enterprise, One Nationwide Plaza 1-24-04, Columbus, Ohio 432152220 Correspondence: Robert E. Frank, Jr., MD Medical Director
متن کاملMarfan's syndrome.
1978 www.thelancet.com Vol 366 December 3, 2005 Marfan’s syndrome is a multisystem connective tissue disorder of autosomal dominant inheritance. Approximately one in every 5000 individuals is affected, though this figure is probably an underestimate. The condition shows no predilection for any particular race or geographical background. It exhibits complete penetrance but variable expression an...
متن کاملLigaments and genetics: Marfan’s and Ehlers Danlos
Marfan’s syndrome (MFS) is inherited as an autosomal dominant disorder and has been linked to the fibrillin-1 gene on chromosome 15q(21.1) – FBN1. 15% of cases are due to sporadic mutations and therefore there will be no accompanying family history in these individuals which may delay the diagnosis. Fibrillin-1 (a glycoprotein) is a major component of microfibrils found in many connective tissu...
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