EponymMarfan's syndrome
Section snippets
Ophthalmological
Marfan's syndrome is a multisystem disorder. As such, management calls for collaboration between various disciplines and coordination of different strategies. Strabismus is a frequent finding7 and, if uncorrected, can result in amblyopia. Highly myopic patients can achieve good visual acuity with glasses or contact lenses. In high myopia, retinal detachment is an important concern because the globe is elongated and the retina is subject to abnormal stretching and therefore has a propensity to
Antoine Bernard-Jean Marfan 1858–1942
Antoine Bernard-Jean Marfan (figure 3) was born in Castelnaudary, département Aude, Languedoc-Roussillon région, France, on June 23, 1858. He began his medical studies in Toulouse and moved 2 years later to Paris. His medical studies were interrupted by military service and he graduated in 1886.13, 14
Marfan trained initially as an internist and then turned to paediatrics. From 1892 to 1914, he was appointed in turn to the posts of assistant professor of paediatrics at the University of Paris
References (15)
Fibrillin mutations in Marfan syndrome and related phenotypes
Curr Opin Genet Dev
(1996)- et al.
Relation between age, arterial distensibility, and aortic dilatation in the Marfan syndrome
Am J Cardiol
(1994) - et al.
Surgical management of children and young adults with Marfan syndrome and pectus excavatum
J Pediatr Surg
(1988) - et al.
Penumothorax in the Marfan syndrome: prevalence and therapy
Ann Thorac Surg
(1984) - et al.
Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders
Hum Mol Genet
(1995) - et al.
Revised diagnostic criteria for the Marfan syndrome
Am J Med Genet
(1996) The Marfan syndrome
Annu Rev Med
(2000)
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Angiotensin Receptor Blockers vs. Beta-Blocker Therapy for Marfan Syndrome: A Systematic Review and Meta-Analysis
2022, Annals of Vascular SurgeryCitation Excerpt :Marfan syndrome (MFS) is an autosomal dominant connective tissue disease highly related to pathogenic mutation of the FBN-1 gene on chromosome 15q21, which controls the encoding of fibrillin-1, an essential component of all connective tissue in the human body.1-4
Primary Cardiac Impairment in Patients With Marfan Syndrome Undergoing a Bentall Procedure
2021, Annals of Thoracic SurgeryMarfan syndrome revisited: From genetics to the clinic
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2019, Journal of Pediatric Surgery