Abstract
Marfan syndrome (MFS) is a rare autosomal dominant connective tissue disorder that can affect many organ systems of the body. MFS is inherited as a dominant trait carried by the FBN1 gene, which encodes the connective protein fibrillin-1 [5]. The diagnosis is based on internationally defined classification criteria [9]. The majority of clinical manifestations of MFS increase with age, and diagnosis in early childhood may be difficult [6]. A follow-up monitoring in case of clinical suspicion of MFS is mandatory to initiate therapeutical interventions in time.
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Herold, M. (2014). Marfan Syndrome Sine Syndromes. In: Rovenský, J., Herold, M., Vašáková, M. (eds) Sine Syndromes in Rheumatology. Springer, Vienna. https://doi.org/10.1007/978-3-7091-1541-1_16
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DOI: https://doi.org/10.1007/978-3-7091-1541-1_16
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