Marfan Syndrome

I need help creating a thesis and an outline on Marfan Syndrome. Prepare this assignment according to the guidelines found in the APA Style Guide. An abstract is required. Asserts that Marfan syndrome can be regarded as a genetic disorder that results from the mutation of the FBN1 gene that is located on chromosome 15. On most occasions, a patient that inherits an FBN1 gene that is affected develops Marfan syndrome because of its dominance. As a result of this, it is evident that any parent that has Marfan syndrome has a 50% possibility of passing the disease to his or her offspring. In tandem to this, Noronha (251) asserts that 26% of the Marfan syndrome cases do not have a family history. Marfan syndrome is not gender-based. it affects both women and men at equal rates. Although this disease was discovered in 1896, the criteria for diagnosing it were accepted by the international medical community in 1996. However, the 1996 criteria were advanced in 2010. The advancement led to the presentation of over 30 signs. Management of this disease has been difficult for very many years because of not only its rarity but also because of the insignificant population it affects (Nevin 284).

The clinical features of Marfan syndrome are very many. They range from external features to internal organs. The syndrome is associated with anterior chest deformities as well as aortic root dilation. It also results in the dislocation of the lens in addition to causing myopia. Other features that result from the disease include extremely arched palate skin striae as well as crowding of the teeth. Some of the clinical features of Marfan syndrome are distinct. However, there are some signs that may crop from other diseases. For instance, rheumatic heart disease is also known for resulting in mitral valves’ damages (Cipriano et al. 57). Thus, the correct diagnosis of Marfan syndrome calls for use of Ghent criteria that give numerous classifications for the syndrome. Ghent criteria were introduced in 2010 in order to replace other criteria that resulted in misdiagnosis.

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