THE DISCOVERY OF MARFAN SYNDROME
Biology 111 Index 1517
Marfan syndrome page 2
During this past spring semester we have covered many systems of the body in Biology. Covering the endocrine system I learned of a disorder called Marfan syndrome that affected former president Abraham Lincoln. The understanding of Marfan syndrome has evolved over the past few decades. Many diseases are named after the primary researcher or the person who discovered the disease and proclaimed medical notifications of the disorder. It is named after a French pediatric practitioner Dr. Antoine Bernard Jean Marfan. Doctor Marfan was the first doctor to record his findings and make publications of the syndrome in 1896. Dr. Marfan discovered the disorder in the late 1890s’ while studying a five year old pediatric patient. He noticed her fingers and toes were very thin and unusually elongated for her age. Doctor Marfan described these findings “as spider like impressions”, which is still viewed today in the majority of Marfan syndrome patients. The mother of his first patient noticed her daughter was born with many abnormalities at birth and she became increasingly curious as her daughter got older. After studying this patient, in 1896 the doctor described a hereditary disorder of connective tissue which became known today as Marfan syndrome Marfan syndrome is a noticeable disorder; people usually grow very thin and have extremely long limbs. A high majority are double-jointed with extremely long fingers. Going into adolescents the chest wall and spine are often deformed and joints grow weak over time and are prone to dislocation. Marfan syndrome affects the body externally and internally. In many cases the disorder can be genetic and is passed from parent to child through the genes. A parent with the disorder has a fifty percent chance of passing the mutation gene on to the child. However, it may also results from a new gene mutation.