Marfan syndrome


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Mar·fan syndrome

 (mär′făn)
n.
A genetic disorder principally affecting the connective tissues of the body, manifested in varying degrees by excessive bone elongation and joint flexibility and by abnormalities of the eye and cardiovascular system.

[After Antonin Bernard Jean Marfan (1858-1942), French pediatrician.]

Marfan syndrome

(ˈmɑːfæn)
n
(Pathology) a disorder of connective tissue that is characterized by abnormal elongation of the bones and often by visual impairment
[C19: named after Antoine Marfan (1858–1942), French paediatrician]

Mar′fan syn`drome

(ˈmɑr fæn, mɑrˈfæn)

n.
a hereditary disorder characterized by abnormally elongated bones, hypermotility of the joints, and circulatory and eye abnormalities.
[after Antonin Bernard Marfan (1858–1942), French pediatrician, who described it in 1892]
References in periodicals archive ?
Around one in 5,000 people has Marfan syndrome: those who carry the gene have a 50% chance of passing it on.
But despite everything she has been cheered by the generosity of people who have supported her Facebook appeal for Marfan Trust which supports the diagnosis and treatment of Marfan syndrome patients.
With a view to highlighting a severe cardiovascular manifestation in a patient with Marfan syndrome, as well as the underlying risk factors for such complications, we present the case of a 47-year-old patient addressed to our clinic with dyspnea and orthopnea, dizziness and fatigue, symptoms that had occurred for about 3 months and progressively worsened over the last week.
The ocular features of Marfan syndrome results in decreased vision including bilateral ectopic lentis 80%, (subluxation is most frequently superotemporal), myopia and retinal detachment.
Marfan syndrome is a spectrum of heritable disorders of connective tissue with a high degree of clinical variability.
Genetic Testing Panel for Marfan Syndrome and Next-Generation Sequencing.
There is no previous report in the literature about its association with Marfan syndrome. We describe here a case of a female with Marfan syndrome, who was diagnosed with symptomatic anomalous origin of the left coronary artery in the right Valsalva sinus.
In summary we describe the case of a 43-year-old male with a novel pathogenic variant in FBN1 causing Marfan syndrome with the rare phenotype of bilateral popliteal aneurysms.
Marfan syndrome (MFS) is a connective tissue disorder comprising multiple organ manifestations caused by a mutation in the gene FBN1 that codes for the protein, fibrillin-1 [1].
Marfan syndrome (MFS) is an autosomal dominant inherited disease associated with systemic connective tissue disorders, particularly involving the ocular, cardiovascular, and skeletal systems.