Abstract

SKELETAL MANIFESTATIONS OF MARFAN SYNDROME: AN OVERVIEW

Dr. C. Vaishnavi Devi*, Stefphy Mary Koshy, ZumZum S., Sharon Maria, M. Sivadharsha

ABSTRACT

Mutations in the extracellular matrix protein fibrillin cause Marfan's syndrome, a systemic connective tissue condition. Mutations in the fibrillin-1 gene are thought to have a dominant negative effect. Fibrillin is an extracellular matrix protein that is required for normal elastic fibrillogenesis and is a key component of microfibrils in the extracellular matrix of both elastic and non-elastic connective tissues. Because it is a multisystem condition involving the circulatory, skeletal, and ocular systems, people with Marfan syndrome are frequently exceptionally tall, with long limbs, long face, and long fingers and toes, hypomusculature, and chest, spine, hip, and foot deformities. Proximal aortic aneurysm, ocular lens displacement, and long-bone overgrowth are some of the clinical symptoms.

Keywords: MARFAN SYNDROME, FIBRILLIN-1, MUTATIONS, SKELETAL MANIFESTATIONS, ELASTICITY.