What Is Marfan Syndrome?doi:10.1001/jama.2023.3826MARFAN syndromeGENETIC disordersThis JAMA Patient Page describes the autosomal dominant genetic disorder of Marfan syndrome and its diagnosis and treatment.Connolly, Heidi M.Niaz, TalhaBowen, Juan M....
Genetic counseling is advisable for anyone thinking about having children, because of the risk that children will inherit the condition. Although there is no cure for Marfan syndrome, working closely with one's doctor in an ongoing monitoring and treatment program can greatly improve the outlook ...
Marfan syndrome is a genetic disorder that is inherited in an autosomal dominant pattern. This means it only one allele is needed for it to be expressed. Marfan syndrome can occur spontaneously as well as being inherited from parents.Answer and...
Marfan syndrome is an incurable connective tissue disorder that is caused by a genetic mutation. Explore the definition, causes, signs, and symptoms of Marfan syndrome, as well as the diagnostic criteria, prevention, treatment, and management of the genetic connective tissue disorder. Related to thi...
A.Marfan syndrome is due to mutations in the gene encoding fibrillin-1, a major constituent of microfibrils.B.All cases of Ehlers–Danlos syndrome are due to mutations affecting the genes encoding the various types of collagen.C.Laminin is found in renal glomeruli along with entactin, type IV...
Marfan syndrome is caused by a defect in the gene that determines the structure of fibrillin-1, an integral protein that plays a pivotal role in the connective tissues of the body. A person is born with this disorder, although it might not be diagnosed until much later in life. ...
Ectopia lentis (EL) and Marfan syndrome (MFS) are considered two distinct clinical entities. We performed genetic and clinical studies to investigate whether EL is actually distinct from MFS or if it is a mild phenotypic expression of it. Seven patients with EL were followed for 5-10 years....
Ectopia lentis is considered to be the hallmark of ocular involvement in Marfan's syndrome. Other ocular findings reported in this disorder consist of kera... GKV Noorden,RO Schultz - 《Arch Ophthalmol》 被引量: 46发表: 1960年 Bilateral ametropic functional amblyopia in genetic ectopia lent...
Genotype – phenotype correlations in Marfan syndrome Heart, 22 (2017), pp. 1750-1752 CrossrefView in ScopusGoogle Scholar [7] R. Franken, et al. Genotype impacts survival in Marfan syndrome Eur. Heart J. (43) (2016), pp. 3285-3290 CrossrefView in ScopusGoogle Scholar [8] K.A. Gro...
Purpose. To investigate the differences in axial length, corneal curvature, and corneal astigmatism with age in patients with Marfan syndrome (MFS) and ectopia lentis. Methods. A retrospective case s...