Marfan Syndrome (Subscribe)

- scoliosis occurs in the majority of patients w/ Marfan's syndrome, (over 60%) but curvatures significant enough to require treatment occur in only 20% of pts; - risk of progression: - scoliosis often occurs before age of 10 & may progress rapidly; - progression is more likely w/ curves greater than 20 deg in growing patients, and is more likely w/ curves more than 30-40 deg in adults; - associated conditions: - ...

Orthopaedic aspects of Marfan's Syndrome Search string "Marfan Syndrome"[MAJR] Orthopaedic URL (this is too long for the database) http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=pubmed&details_term=%22Marfan%20Syndrome%22%5BMAJR%5D%20AND%20%28orthopedic%5BText%20Word%5D%20OR%20%28%22orthopedics%22%5BTIAB%5D%20NOT%20Medline%5BSB%5D%29%20OR%20%22orthopedics%22%5BMeSH%20Terms%5D%20OR%20orthopaedic%5BText%20Word%5D%29

Marfan syndrome (MFS) is a spectrum disorder caused by a heritable genetic defect of connective tissue that has an autosomal dominant mode of transmission. The defect itself has been isolated to FBN1 gene on chromosome 15, which codes for the connective tissue protein, fibrillin. Abnormalities in this protein cause a myriad of distinct clinical problems, of which the musculoskeletal, cardiac, and ocular system problems predominate. The skeleton typically displays multiple deformities ...

Marfan syndrome may cause or feature Miscellaneous syndromes Hypokalaemic distal renal tubular acidosis Symptoms and Signs Arachnodactyly Enophthalmos High arched palate Lens dislocation Marfanoid habitus Micrognathia Scoliosis Tall stature Congenital conditions Retrognathia Mendelian inherited conditions Megalocornea Cardiac and vascular conditions Aneurysms Aortic valve incompetence Mitral valve incompetence Respiratory conditions Pneumothorax may be a risk factor ...

Discussion: - older names include dolichostenomelia (Greek for long, narrow limbs) and dystrophia mesodermalis congenital, typus Marfanis; - inherited as an autosomal dominant trait with variable expressivity. - characterized by long, thin limbs and by laxity of ligaments;

A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported ...

Marfan syndrome