Phenotypic variation in the expression of Marfan syndrome and the relationship to age

Abstract

This research has provided an analysis of how the issue of age is related to the expression of specific symptoms characteristic of the genetic disorder known as Marfan syndrome. Marfan syndrome occurs when the body cannot produce, or produces too little fibrillin-1, a component of the connective tissues. The body systems affected by Marfan syndrome include the skeletal, cardiovascular, ocular, and pulmonary systems. Evidence drawn from medical case studies showed that while not statistically significant, illustrated that symptom expression increases with age, especially during the period of adolescence. The evidence also suggested that the type of physician involved in a diagnosis may affect the information provided in case studies.