Growth curves for males in Marfan syndrome. (A) 50th percentile and (B) 95th percentile for the general population used for comparison. Reprinted with permission from Erkula G, Jones KB, Sponseller PD, Dietz HC, Pyeritz RE. Growth and maturation in Marfan syndrome. Am J Med Genet. 2002;109(2):103.9
Growth curves for females in Marfan syndrome. (A) 50th percentile and (B) 95th percentile for the general population used for comparison. Reprinted with permission from Erkula G, Jones KB, Sponseller PD, Dietz HC, Pyeritz RE. Growth and maturation in Marfan syndrome. Am J Med Genet. 2002;109(2):104.9
Normative upper-to-lower segment ratios for (A) white and (B) African-American subjects. Reprinted with permission from McKusick VA. Heritable Disorders of Connective Tissue. Philadelphia, PA: Mosby; 1972.
Dilation at the level of the aortic root as seen in Marfan syndrome. 1, aortic valve annulus; 2, aortic root (sinuses of Valsalva); 3, sinotubular junction; 4, ascending aorta; AO, aorta; LA, left atrium; LV, left ventricle. Rights to be retained by author (B.T.T.).
Ectopia lentis; short stature; brachydactyly; characteristic facial features
Skeletal and cardiovascular features of Marfan syndrome; no ectopia lentis; aggressive dilation of large- and medium-sized arteries; most common and unique features include hypertelorism, bifid uvula/cleft palate, blue sclerae, developmental delays, hydrocephalus, translucent skin, arterial tortuosity, and craniosynostosis
Congenital contractural arachnodactyly
Marfan-like skeletal features; “crumpled” ears; contractures of the knees, ankles, and digits at birth; progressive kyphoscoliosis; arachnodactyly; cardiac valvular anomalies
Familial thoracic aortic aneurysm
Dilation of the aorta and dissections either at the level of the sinuses of Valsalva or the ascending thoracic aorta without the other phenotypic features of Marfan syndrome
Ehlers-Danlos syndrome, vascular type
Thin skin with visible veins; easy bruising; small joint laxity; rupture of hollow organs as well as medium- and large-size arteries
Ehlers-Danlos syndrome, kyphoscoliotic form (type VI)
Marfanoid body habitus; kyphoscoliosis; joint laxity; mitral valve prolapse; hypotonia; blue sclerae; ocular fragility; at risk for rupture of medium-sized arteries
Ectopia lentis; skeletal abnormalities such as those seen in Marfan syndrome; variable cognitive impairment; tendency for thrombotic events