Marfan syndrome (MFS) is a rare disease often associated with the involvement of the oral and maxillofacial region [ 1 ]. It is an autosomal dominant inherited connective tissue disorder, with an incidence of 1 in 10.000 cases for both sexes [ 2 ].

The cardinal phenotypic hallmarks of Marfan syndrome (MFS) include cardiac, ocular, and skeletal abnormalities. Since the clinical phenotype of MFS is highly heterogeneous, with certain symptoms appearing as children age, the diagnostic process …

Congenital diaphragmatic hernia (CDH) is a relatively common major birth defect with estimated incidence between 1/2.000 and 1/3.000 live- and still-births [ 1 – 3 ]. Left-sided posterolateral diaphragmatic defects, named Bochdalek hernias (BH) are …

Marfan syndrome (MFS) is a hereditary, autosomal dominant disorder due to mutations in the fibrillin-1 gene, that affects connective tissue in multiple organs, most notably the eyes, skeleton, and aorta [ 1 ]. For those with MFS, acute type A …

Marfan syndrome (MFS) is an autosomal dominant genetic disorder of the connective tissue with an estimated incidence of 1 in 5,000 live births [ 1 ]. This syndrome affects multiple organs and tissues including cardiovascular (i.e., mitral valve …

Children with Marfan (MFS) and Loeys-Dietz syndrome (LDS) report limitations in physical activities, sports, school, leisure, and work participation in daily life. This observational, cross-sectional, multicenter study explores associations …

Marfan syndrome (MIM 154,700, MFS) is a hereditary disorder originally reported by professor of paediatrics Antonin-Bernard Marfan (1858–1942). Physician prompted later interest of scientists in this disease, who recognized its Mendelian dominant …

Persistent reverse blood flow from the intercostal and lumbar arteries into the aortic aneurysm after an endovascular repair is common and is known as a type II endoleak. However, recanalization of thrombosed intercostal arteries after an open …

Marfan syndrome is a genetic disorder of connective tissue caused by mutations in the Fibrilin-1 ( FBN1) gene encoding the matrix protein fibrilin-1 [ 1 ]. The disease affects different parts of the human body, including the heart and blood vessels …

Recent reports suggest that self-reported snoring, which is a feature of obstructive sleep apnea, is associated with aortic enlargement in Marfan syndrome (MFS). Objective assessment of snoring although lacking, could provide a rational for OSA …

Betablocker und Angiotensin-Rezeptorblocker (ARB) haben sich in einer Metaanalyse bei Menschen mit einem Marfan-Syndrom als wirksam erwiesen. Experten sprechen sich auf Basis dieser Daten für eine Kombitherapie aus.