“…Collagen type II disorders have been demonstrated in the costal cartilages in PE (Feng et al, 2001), as well as overexpression or downregulations of some genes playing a role in the metabolism of cartilage and connective tissues, as collagen genes, matrix metalloproteinases, tumor necrosis factor-alpha, and filamin PE patients have often a typical aspect: they are slim and tall, with some degree of joint laxity, rounded shoulders with a kyphotic habit and a "pot belly" (Colombani, 2009). The association with scoliosis or kyphoscoliosis, reported in about 15%-50% of cases (Frick, 2000;Waters et al, 1989), sometimes represents a matter of concern for the patients and families, however spine deformities almost never represent a serious clinical problem and usually do not require any treatment (Waters et al, 1989). Cardiac anomalies are only seldom associated with PE, but mitral valve prolapse is frequent (Kotzot & Schwabegger, 2009).…”