Neonatal Marfan syndrome (also called infantile Marfan syndrome) is a term used to designate a severe presentation of Marfan syndrome that is evident in early infancy and shows rapid progression during childhood.
Importantly, there are no specific criteria for use of this term. As a result, it is difficult to make broad generalizations about the diagnosis, management, or prognosis of neonatal Marfan syndrome. Download the fact sheet to learn more.
Many people with Marfan syndrome and some related disorders experience pulmonary complications, or problems with their lungs. If you have Marfan syndrome, it is important for you to see a pulmonologist (lung doctor) if you suspect that you have any problems with your lungs. What are the common types of lung problems in people with […]
Le syndrome de Marfan est une maladie génétique potentiellement mortelle qui touche le tissu conjonctif du corps. Reconnaître les signes du syndrome de Marfan, parvenir au diagnostic juste et recevoir le traitement nécessaire peuvent permettre aux personnes atteintes de vivre une existence longue et épanouie.
Clinical manifestations of MFS in other organ systems were critically evaluated for their specificity and diagnostic utility based on expert opinion and the available literature. Several of the “minor” criteria from the old Ghent nosology were eliminated, but the most selective systemic features were included in the “systemic score”.
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