Síndrome de Marfan - O Que é Síndrome de Marfan

🎯 Schedule Your Consultation With the Specialist Now (Online or In-Person)! https://bit.ly/drcaiobruzaca 00:00 - Marfan Syndrome - What is Marfan Syndrome? Marfan syndrome is a genetic disease associated with an alteration in the fibrillin gene, FBN1, which affects connective tissue, responsible for connecting tissues. Like other genetic diseases, Marfan syndrome presents a very wide variability of signs and symptoms. 01:36 - Characteristics of Marfan Syndrome Marfan syndrome presents two main characteristics: visual impairment (lens subluxation) and cardiac impairment (aortic dilation). It also presents alterations in other organs, including the individual being long-limbed and the presence of bone alterations such as scoliosis, pectus carinatum, or pectus excavatum. 06:16 - Confirmation of Marfan Syndrome Diagnosis A consultation with a medical geneticist is necessary for a physical examination, evaluation of the individual's medical history, and to determine the need for genetic testing to diagnose Marfan syndrome. In this video: What is Marfan syndrome? Characteristics of Marfan syndrome Diagnosis of Marfan syndrome Marfan Syndrome - What is Marfan Syndrome?    • Síndrome de Marfan - O Que é Síndrome de M...   #genetics #geneticist #medicalgeneticist #medicine