The+Patient+Wakes+Up

A few hours later the patient awakes and is in a confused state. You reassure her that everything is ok and explain to her the situation that has occurred. She begins to calm down and you ask her some routine questions to verify if she is experiencing any other pain or problems. When she starts to talk you notice a slight speech impediment that appears to have been present her entire life. You examine the inside of her mouth and believe the cause of this to be because of the high position of her palates and smaller than average size jaw. You ask the patient if you may examine her back to check for any other injuries. You see that the spine has obtained an abnormal curve to it that could not have been brought upon by this car accident. You allow the patient to rest while you decide to look further into her history. Upon request of the family physician you receive the history of those in her immediate family and search for anything that could possible suggest any sort of explanation linking her symptoms. Her father had unfortunately passed away 3 years ago of an aortic aneurysm. It also appears that the father’s brother suffers from scoliosis that causes the curvature of his spine to go severely forward so much that is impacted on his lunges and impairs his breathing. Both men appear to be above average height and are the only two present in that generation. The mother of the two men (grandmother of the patient) was also above average female height and had severe visual problems due to the dislocation of her lens in both of her eyes. She died of unknown causes in her late sixties. The grandfather of the patient is also above average height but maintains no unusual physical problems as of now. The patient has one younger brother that appears to have no sort of abnormalities as of yet and maintains an average height for his age. It also mentions in the report about the impaired speech of the patient as well as her father. The mother and brother have not presented any sort of issues similar to this. You now take all this information you have acquired and create a pedigree chart to accurately explain the occurrences of these phenotypes and when they happen. You know believe that these symptoms are all linked together and after seeing the pedigree it appears to be an autosomal dominant disorder. . It is now very evident to you that the combination of all these symptoms are linked to a specific connective tissue disorder called Marfan Syndrome. Although there is no definitive test for this disease, you refer her to a clinical geneticist within the hospital for further analysis and inform the family physician of your findings. Congratulations, now that the patient is of knowledge of what she may have there are ways to prevent from any further problems that could manifest due to the disorder.

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