Marfan Syndrome

The syndrome (disease) Marfan is an autosomal dominant disease group of genetic disorders of connective tissue. Syndrome caused by a mutation in the gene that encodes the synthesis glikoproteinovmi-1 is pleiotropic.

In classic cases, individuals with Marfan syndrome high (dolichostenomelia), have long limbs, elongated fingers (dolichostenomelia) and hypoplasia of the adipose tissue. In addition to the typical changes in the musculoskeletal apparatus (tubular long bones, joint hypermobility), there is a pathology in the organs and cardiovascular system that, in the classical version is the triad of Marfan.

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