Marfan syndrome is a genetic disorder characterized by cardiac, ocular, and skeletal manifestations. While cardiac disease, notably aortic dilation and dissection, determines life expectancy of the patients, other manifestations can help in early diagnosis which is essential for erly therapy and prevention of catastrophic events. Therefore, information about the relative frequency of each manifestation can be helpful. In different geographical regions, there may exist different mutations with different phenotypes.
In this study we interrogated manifestations of Marfan syndrome in a cohort of 23 Iranian patients. Positive wrist and thumb signs, hind foot valgus, down-slanting palpebras, and enophthalmos were the most frequent manifestations in this cohort. Ectopia lentis, aortic root dilation, and pes planus were less frequently seen than in western reports.
Awareness of the frequent manifestations of Marfan syndrome is crucial in early diagnosis of the patients which may significantly increase their life spans.