Marfan syndrome does not preclude childbirth by females, but these women must be monitored regularly by echocardiography. Get Essay The body systems most often affected by Marfan syndrome are the Skeleton, Eyes, Heart and blood vessels, Nervous system, Skin, and the Lungs. Marfan Sydrome. As a boy who was fourteen years old (the patient), wanted to always become a basketball champ or at least a player but his coach didn’t like the way he looks so the fourteen year old boy went to see Dr. Marfan. They are tall, skinny they have long toes and fingers they have a dent … Marfan syndrome is an autosomal dominant genetic disorder, and in most cases transmitted from parent to offspring (NIAMS, "What causes Marfan Syndrome"). In 1896 Antoine Marfan, a French doctor, discovered Marfan syndrome when he had a patient. The doctor first didn’t see but then finally he saw the problem. However, in most cases, the more someone ages, the more the Marfan syndrome symptoms will progress. Therefore, one of the cardinal features of the disorder is a family history . The underlying condition of the incompetence is the mutation of the FBN1 gene, which is answerable for the synthesis of fibrillin, the constructive protein of the intercellular matrix, which allows resilience and contractility of the connective tissue. The conditions and features applied with Marfan syndrome. The gene is responsible for the production of filbrillin, a protein found in connective tissue that holds cells together. Marfan Syndrome By Jordan Martinez This disease is interesting to me because I have a friend diagnosed with this disease. In 1991 researchers identified the gene that causes this disorder. So because of this the person will not relieve that they have the … These are conditions to being diagnosed with Marfan syndrome. Marfan syndrome is an autosomal dominant disease; approximately 75% of the cases are inherited and 25% represent de novo mutations. Sometimes the connective tissue either does not have enough or contains a ineffective form of the protein. As a result, the connective … Marfans syndrome is a disorder of connective tissue.
If you take a quick glance at him you could tell that he has unusual body features. Marfans syndrome effects the skeleton, lungs, eyes, heart, and blood vessels. In many families with inherited Marfan syndrome the mutation effect on chromosome 15 is the cause. Read this Miscellaneous Essay and over 89,000 other research documents.
Get Your Custom Essay on Marfan Syndrome Just from $13,9/Page. Marfan syndrome refers to congenital anomalies with autosomal-dominant inheritance.