| Remarks |
Possibly affected; aortic aneurysm; abnormal dentition; cataracts; downsloping ribs; pectus carinatum; skin easily bruised with abnormal scarring; Piezogenic papules; mild upper thoracic scoliosis; hyperextension in shoulders and hips; limited elbow mobility; bony enlargements in many joints; pes planus; genu valga; Beighton score = 0/9; bleeding ulcer; C-spine: low lying cerebellar tonsils, C3-C4 subluxation; L-spine: disc disease L3-S1, type II modic A L5-S1, mild dural ectasia; aortic stenosis below renals; severe stenosis in right iliac and mild stenosis in celiac; carotid artery with intimal thickness and plaque; father of an affected daughter (GM21468) |