TABLE III.
Desbuquois Dysplasia Types 1, 2, and Kim, Major Features Compared to the Present Study
| DBD type 1 | DBD type 2 | DBD type Kim | Present study | |
|---|---|---|---|---|
| Major criteria | ||||
| ”Monkey wrench” appearance of pelvis | + | + | + | + |
| Flat acetabular roof | + | + | + | + |
| Elevated greater trochanter (age related) | + | + | + | + |
| Proximal fibular overgrowth | + | + | + | − |
| Advanced carpal/tarsal bone age | + | + | + | + |
| Hands/feet | ||||
| Accessory ossification proximal phalanx, second digit | + | − | − | − |
| Bifid distal phalanx of the thumb | + | − | − | − |
| Delta phalanx/delta-like phalanx | + | − | − | − |
| Phalangeal dislocation | + | − | + | − |
| Elongated appearance of fingers/toes | − | − | + | − |
| Other criteria | ||||
| Brachydactyly with “stub thumbs” | + | + | − | + |
| Brachymetacarpalia | + | + | + | + |
| Wide metaphyses | + | + | + | + |
| Flat epiphyses | + | + | + | + |
| Vertebral body indentations/coronal or sagittal clefts | + | + | + | − |
| Wide anterior ribs | + | + | − | + |
| Enlarged first metatarsal | + | + | + | − |
| Coxa valga | + | + | + | − |
| Medial deviation of the foot | + | + | + | − |
| Present study major features | ||||
| Developmental delay/learning disability | +/− | +/− | − | + |
| Ligamentous laxity | + | + | + | + |
| Patellae dislocation/lateral displacement | − | − | + | + |
| CANT1 mutation | + | + | + | − |