Marfan Syndrome
Marfan syndrome and related disorders affect the body’s connective tissue. Connective tissue holds the body together and plays a role in its growth and development. This disorder can affect many parts of the body since connective tissue is found all over the body. Bones, joints, eye, skin, lungs, the heart and blood vessels are few of the body parts Marfan syndrome affects.
Marfan syndrome is caused by a mutation in a gene called the fibrillin gene. This mutation affects the way the body produce a protein which helps give connective tissue its elasticity and strength. About …show more content…
Certain combinations of symptoms and family history must be present to confirm a diagnosis of Marfan syndrome. There are also different testing a patient can take depending on which body part is affected.
There is no cure for Marfan Syndrome, however there are treatment that focuses on preventing the various complications of the disease. Medication, therapy, surgical and other procedures are also used depending on the type of Marfan syndrome the patient have.
Scenario
Mark and Joan has bring in their 26 days old baby for a health examination. From both the mother and father family history, Marfan syndrome runs in their family. After a full body examination the doctor concluded that the baby was in a excellent condition. Vitals signs were normal however the baby length was quite larger than it should be. Gene testing was done and it came back positive for Marfan syndrome. Doctor want them the make an appointment in two weeks to monitor the baby