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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]
Antoine Bernard-Jean Marfan (French pronunciation: [ɑ̃twan bɛʁnaʁ ʒɑ̃ maʁfɑ̃]; June 23, 1858 – February 11, 1942) was a French paediatrician. He was born in Castelnaudary (département Aude , Languedoc-Roussillon ) to Antoine Prosper Marfan and Adélaïde Thuries. [ 1 ]
To date, 3 forms of fibrillin have been described. The fibrillin-1 protein was isolated by Engvall in 1986, [5] and mutations in the FBN1 gene cause Marfan syndrome. [6] [7] This protein is found in humans, and its gene is found on chromosome 15. At present more than 1500 different mutations have been described. [1] [7]
The theories are that he suffered from multiple endocrine neoplasia type 2B (MEN2B) or Marfan syndrome, rare genetic disorders. [39] DNA analysis of a pillowcase stained with Lincoln's blood, currently in possession of the Grand Army of the Republic Museum and Library in Philadelphia may be able to resolve open questions about Lincoln's health ...
As with Marfan syndrome, people with CCA typically have an arm span that is greater than their height and very long fingers and toes. [2] However, Beals and Hecht discovered in 1972 that, unlike Marfan's, CCA is caused by mutations to the fibrillin-2 (FBN2) gene rather than the fibrillin-1 (FBN1) gene. [1] [3]
The suit states that Orsini had Marfan syndrome, an inherited connective-tissue disorder that left him with an enlarged aorta. Orsini had received an aortic valve replacement and had been ...
Doctors later discovered Hyman's brother Michael had an enlarged aorta, though he was clear of Marfan syndrome, and he underwent an open heart surgery afterwards. [18] Experts believed Hyman was lucky to have survived as long as she did, playing a physically demanding sport such as volleyball.
She has over 500 peer-reviewed publications with groundbreaking insights into Charcot–Marie–Tooth disease, Marfan syndrome, Prader–Willi syndrome, and Williams syndrome. [5] In 1994, her laboratory discovered the gene for the inherited immunodeficiency Wiskott–Aldrich syndrome.