| Remarks |
Clinically affected; carotid, renal and brain vessels are all affected; joint and muscle pain; weakness in shoulders, knees and legs; malar hypoplasia; soft auricles; beaked nose; nicrognathia; high palate; gray sclerae; pectus excavatum; carotid bruit right; femoral bruit left; varicosities on ankles and feet; blood pressure 121/62; soft mildly hyperextensible skin; striae; Piezogenic papules; scoliosis; mild kyphosis; hyperextension in shoulders, elbows and hips; limited neck mobility; pes planus; Beighton score = 2/9; 10 % hearing loss; trouble swallowing; multiple perineural cysts in C-spine; dural ectasia in L-spine and T-spine; disc disease at L5-S1 and L2-L3; see GM21671 Fibroblast |