| Remarks |
Clinically affected; carotid fibromuscular dysplasia; no dissection or stroke; history of leg pain; dental crowding; overbite; high arched palate; nystagmus; blue sclerae; downsloping ribs; pectus excavatum; carotid bruit left; cyanosis with mottling; blood pressure 129/76; very soft hyperextensible skin (73cm skin extension measurement); piezogenic papules; severe lumbar scoliosis; upper thoracic kyphosis; hyperextension in shoulders, elbows, hips and knees; pes planus; genu valga; arachnodactyly; Beighton score = 8/9; hearing loss; tinnitus; C-spine: 5mm tonsillar herniation, Chiari 1 malformation, cyringomyelia C4-C6, retroflexed odontoid with pannus formation, disc bulge herniations C6-C7 and C4-C6 with moderate stenosis of spinal canal; T-spine: desiccation of discs, multiple Schmorl nodes; L-spine: dural ectasia, perineral cyst and degenerative discs at all levels; see GM21504 Fibroblast |