Remarks |
Clinically affected; family history of strong vascular features; malar hypoplasia; soft auricles; high wide palate; blue sclerae; abnormal chest wall; soft hyperextensible skin; cigarette paper scars; poor wound healing; molluscoid pseudotumors; piezogenic papules; scoliosis in lower thoracic spine; hyperextension in shoulders, elbows, hips, knees, and CMC, MCP, PIP and DIP joints; dislocations in left shoulder; neck motility limited to left and right; hearing loss; history of esophageal pain; asthma; occasional chest pain; mild focal narrowing of the proximal celiac axis; scattered irregularity of the superior mesenteric artery; large left kidney; reversal of normal cervical lordosis; mild posterior disc protrusion at C5-C7; mild internal degeneration of the L5-S1 discs with very mild posterior protrusion; mild osteoarthritic changes at the lumbar facets; moderate changes at L1-L3; affected sister is GM21639 |