Marfan SyndromeA Connective Tissue Disease

Serious anatomical and functional abnormalities can result from hereditary errors in the structure of connective tissue proteins. Marfan15 syndrome, for example, results from the mutation of a gene on chromosome 15 that codes for a glycoprotein called fibrillin, the structural scaffold for elastic fibers. Clinical signs of Marfan syndrome include unusually tall stature, long limbs and spidery fingers, abnormal spinal curvature, and a protruding "pigeon breast." Some other signs include hyperextensible joints, hernias of the groin, and visual problems resulting from abnormally long eyeballs and deformed lenses. More seriously, victims exhibit a weakening of the heart valves and arterial walls. The aorta, where blood pressure is the highest, is sometimes enormously dilated close to the heart, and may suddenly rupture. Marfan syndrome is present in about 1 out of 20,000 live births and kills most of its victims by their mid-30s. Some authorities think that Abraham Lincoln's tall, gangly physique and spindly fingers were signs of Marfan syndrome, which might have ended his life prematurely had he not been assassinated.

15Antoine Bernard-Jean Marfan (1858-1942), French physician

Essentials of Human Physiology

Essentials of Human Physiology

This ebook provides an introductory explanation of the workings of the human body, with an effort to draw connections between the body systems and explain their interdependencies. A framework for the book is homeostasis and how the body maintains balance within each system. This is intended as a first introduction to physiology for a college-level course.

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