In addition, the proband karyotype was X trisomy, which may cause X trisomy syndrome. At the 6-month follow-up after posterior scleral reinforcement surgery, the proband's visual acuity improved significantly; however, myopia was still progressing.#We report a rare case of MFS with a X ...
Marfan syndrome: a case report. Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. Children affected by the Marfan syndrome carry a mutation in one of th... Rajendran,Ganesh,Vijayakumar,... - 《Case Reports in Dentistry》 被引量: 7发表: 2012年 Surgical Treatm...
Mutations in the FBN1 gene cause Marfan syndrome (MFS), a genetic condition with defective connective tissues. FBN1 haplotypes and single nucleotide polymorphisms have also been reported to be associated with systemic sclerosis (SSc), a connective tissue disease characterized by fibrosis of multiple...
Our purpose is to report a patient with a novel variant in the fibrillin-1 (FBN1)gene causing the Marfan syndrome (MFS). The 29-year-old female patient with musculoskeletal, cardiovascular, and ocular findings compatible with the MFS had a novel pathogenic mutation on the FBN1 gene. We ...
obased on case-control study o52 children (mean age 11 years) with Marfan syndrome based on revised Ghent criteria and 73 healthy control children (mean age 13 years) were evaluated ocomparing ocular findings in children with Marfan syndrome vs. controls ...
Marfan syndrome (MFS) is an autosomal dominant disorder developing as a result of mutation of fibrillin-1 gene located on chromosome 15. This collagen vascular disease causes multisystem abnormalities involving musculoskeletal, cardiovascular, ocular, and neurologic systems. MFS also causes secondary osteop...
The cardiovascular involvement of Marfan syndrome is usually referred as the most serious and severe clinical manifestation. However, it rarely occurs in children. This case report presents two siblings who have been initially diagnosed with aortic aneurysm which eventually turned out to be a manifestat...
obased on case-control study o52 children (mean age 11 years) with Marfan syndrome based on revised Ghent criteria and 73 healthy control children (mean age 13 years) were evaluated ocomparing ocular findings in children with Marfan syndrome vs. controls ...
Surgical Treatment of Scoliosis in Marfan Syndrome: A Case Report Marfan syndrome (MFS) is a connective tissue disorder of variable inheritance that affects multiple organ systems. Scoliosis affects around 60% of Marfan patients and may progress rapidly during growth spurts, leading to marked ...
Neonatal Marfan syndrome (nMFS) is the rare and severe form of this connective tissue disorder with poor outcome due to progressive valvular insufficiency. We describe a case of nMFS suspected in utero, by fetal echocardiography, due to marked dilatation of both great arteries, which is the first...