Pediatric Marfan Syndrome: A Rare Diagnosis in Primary Health Care

Abstract

Marfan syndrome is one of the most common hereditary diseases of connective tissue, mostly of dominant autosomal transmission.
There is a broad range of clinical manifestations, but the involvement of musculoskeletal, ocular and cardiovascular systems is classical, although the lung, skin and central nervous system are also frequently affected.
This case is about a 7-year-old boy who presents several alterations in physical examination that, associated with the results of complementary diagnostic tests, led to the diagnosis of this syndrome. It is a Marfan syndrome, probably sporadic, given the absence of family history, which makes the case even rarer.
An early diagnosis of Marfan syndrome is crucial to reduce the risk of future complications, including cardiovascular, such as dissection or rupture of the aorta.