Figure 1 - uploaded by Chuang Li
Content may be subject to copyright.
Marfan syndrome pedigree. (Ia) father of the proband; (Ib) mother of the proband; (IIa) proband with Marfan syndrome; (IIb) wife of the proband; IIIa, foetus during pregnancy.
Source publication
Marfan syndrome (MFS) is caused by a FBN1 mutation. Many organ systems are affected in patients with MFS, including the skeletal, ocular, cardiovascular and pulmonary systems. Cardiovascular manifestations are the main cause of mortality in patients with MFS. The mode of inheritance of MFS is autosomal dominant inheritance and the offspring are at...
Citations
Marfan syndrome (MFS) is a multisystem connective tissue disease with autosomal dominant inheritance. It is mainly caused by FBN1 gene mutation and often has different clinical manifestations. Neonatal MFS is especially rare with severe conditions and a poor prognosis. At present, there is still no radical treatment method for MFS, but early identification, early diagnosis, and early treatment can effectively prolong the life span of patients. This article reviews the latest advances in the diagnosis and treatment of MFS.
