ABSTRACT

Marfan syndrome (MFS) is an autosomal dominant disorder developing as a result of mutation of fibrillin-1 gene located on chromosome 15. This collagen vascular disease causes multisystem abnormalities involving musculoskeletal, cardiovascular, ocular, and neurologic systems. MFS also causes secondary osteoporosis, and leads to a decrease in bone mineral density (BMD), and an increase in fracture risk. In this report, we aimed to point out that MFS is a cause of seconder osteoporosis and the reason for developing osteoporosis in general by examining the case where a 29 year old male MFS patient who visited our outpatient clinics with complaints of low back, and right leg pain exhibited decrease in BMD. (Turkish Journal of Osteoporosis 2012;18: 68-71)