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Arch Pediatr Adolesc Med. 2005;159:722-723.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

Denouement and Discussion: Marfan Syndrome

Marfan syndrome (MFS), an autosomal dominant disorder of connective tissue, was first described by Antonine-Bernard Marfan in 1896 when he presented to the Medical Society of Paris a 5-year-old girl with long limbs and fingers and a variety of other features that have come to be associated with the syndrome bearing his name.¹ In 1991, MFS was linked to chromosome 15q, and reduced levels of a relatively newly described glycoprotein, fibrillin, were found in the fibroblasts of patients with MFS.^2-3 Fibrillin, an essential component of extracellular connective tissue, interacts with elastin in the aorta and ligaments and anchors nonelastic tissue such as ciliary zonules, tendons, and periosteum. In patients with MFS, fibrillin aggregation into microfibrils is disturbed,⁴ leading to the typical phenotypic expression. Subsequent studies^{2, 5-7} have demonstrated that all patients with MFS have a mutation in the large gene encoding fibrillin 1 (FBN1) at 15q21.1.

The diagnosis . . . [Full Text of this Article]

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Arch Pediatr Adolesc Med. 2005;159(8):721.
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