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Department Case Study| Volume 31, ISSUE 5, P609-617, September 2017

Marfan Syndrome (MFS): Visual Diagnosis and Early Identification

      A 14-year-old White adolescent boy presented to our pediatric primary care office for an initial well-child examination and sports physical examination. He stated that the high school coach was recruiting him to play basketball because he was tall and had long arms and large hands, which allowed him to “easily recover rebounds.” On the preparticipation physical examination form (
      American Academy of Family Physicians, American Academy of Pediatrics, American College of Sports Medicine, American Medical Society for Sports Medicine, American Orthopaedic Society for Sports Medicine, and American Osteopathic Academy of Sports Medicine
      Preparticipation physical exam form.
      ), he denied syncopal episodes, chest pain or pressure with exercise, palpitations, or shortness of breath, and he did not have a past medical history of heart problems or seizures. He did, however, have a positive family history of two relatives dying suddenly from “heart problems” in their 40s. His family did not know any details of their family's heart problems and was unaware of any genetic diseases in the family.

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      Biography

      Heide S. Temples, Assistant Professor, College of Behavior, Social and Health Sciences, School of Nursing, Clemson University, Clemson, SC.

      Biography

      Curtis R. Rogers, Senior Clinical Geneticist, Greenwood Genetic Center, Greenville, SC.

      Biography

      Deborah Willoughby, Professor, College of Behavior, Social and Health Sciences, School of Nursing, Clemson University, Clemson, SC.

      Biography

      Bonnie Holaday, Professor, College of Behavior, Social and Health Sciences, School of Nursing, Clemson University, Clemson, SC.