COMMONLY ASSOCIATED CONDITIONS • Marfan syndrome: Aortic root dilation, Marfanoid habitus, pectus excavatum/carinatum, and other features. • Ehlers–Danlos: joint laxity, “
Patients typically have fair skin with coarse hair, osteoporosis, mental retardation (nearly 50%), seizure disorder, marfanoid habitus, and poor circulation.
habitus, flexion contractures, abnormal pinnae, muscular hypoplasia, and rarely, aortic-root dilatation. 8, 9 Fibrillin, a large glycoprotein (350 kd), is one of the structural