| Remarks |
Clinically affected; carotid and renal fibromuscular dysplasia; joint pain; malar hypoplasia; overbite; micrognathia; high palate; small nodule on left thyroid; absent gag reflex; abnormal pupil reaction and shape; downsloping ribs; pectus excavatum; systolic and diastolic murmur; carotid bruit left and right; blood pressure 117/66; hyperextensible skin, easily bruised; Piezogenic papules; upper thoracic scoliosis; cervical kyphosis; hyperextension in shoulders, elbows, hips and knees; neck mobility limited; pes planus present when standing; Beighton score = 5/9; difficulty swallowing; intermittent blurred vision; C-spine: disc disease at C6-C7 and C4-C5, low lying tonsils and pannus around odontoid; T-spine: dural ectasia throughout, disc disease at T2-T3; L-spine: spondylolisthesis at L5-S1 with dural cyst, facet arthrosis at all levels; see GM21506 Fibroblast |