Table 1 Clinical information of affected family members
From: A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia
Patient | Gender | Age at examination | Height | Flatfoot | Brachydactyly | Gait abnormalities (onset age) | Hip pain (onset age) | Other joint pain, bilateral or unilateral (onset age) | Morning stiffness (onset age) | Fatigue with long-distance walking (onset age) |
|---|---|---|---|---|---|---|---|---|---|---|
II-9a | M | 58 | 160 | + | + | + (9 y) | Left side (28 y) | Left knee (28 y) | Hip (−) | + (−) |
II-11 | F | 60 | 160 | + | Data unavailable | + (−) | Bilateral (38 y) | Lumbar vertebra (38 y) | Ankle, hip (40 y) | + (−) |
II-7 | M | 62 | 152 | + | Data unavailable | + (−) | – | Bilateral knees (56 y) | – | – |
II-13a | M | 54 | 155 | + | + | + (9 y) | Bilateral (−) | Bilateral knees (8 y) | Knees (26 y) | + (8 y) |
III-2 | M | 49 | 162 | – | – | – | Bilateral (47 y) | – | – | – |
III-10a | F | 39 | 162 | + | – | + (6 y) | Left side (22 y) bilateral (25 y) | Lumbar vertebra, bilateral knees (25 y) | Ankle, knees (20 y) | + (12 y) |
III-16a | F | 31 | 164 | + | – | + (12 y) | Bilateral (29 y) | Left knee (29 y) | Hip (29 y) | + (12 y) |
III-18a | M | 25 | 165 | + | – | + (8 y) | Left side (13 y) bilateral (20 y) | Lumbar vertebra (18 y) | Hip (18 y) | + (8 y) |
III-22a | F | 34 | 162 | + | – | + (10 y) | Bilateral (28 y) | – | Hip (30 y) | + (10 y) |
III-24a | F | 11 | 140 | + | – | + (10 y) | – | – | – | – |