1 | A219D | 4 years (III-1): mild short stature and genu valgum | Yes | Small epiphyses with regular contours and genu valga at 10 years of age | Coxa vara, small epiphyses, short and broad femoral necks at 10 years of age | Irregular ossification of the upper and lower end plates at 7 years of age | No brachydactyl but small carpal bones at 4 years of age |
2 | I192N | 2 years (III-2), 8 years (II-2), 10 years (II-1), 31 years (1-1): bilateral hip dysplasia | No | Epiphyses small and irregular in contour at 6 years of age | Small epiphyses, short and broad femoral necks at 6 years of age | Vertebral bodies have a slightly reduced height and an oval shape at 6 years of age | Mild metaphyseal changes at 6 years of age |
3 | T120M | 6 years: pain in the hips and knees | No | Small epiphyses with irregular contours and vertical metaphyseal striations at 8 years of age | Not available | Irregular ossified end plates at 8 years of age | Relatively normal at 8 years of age |
4 | E134K | 2 years: knee pain | Yes | Not available | Not available | Not available | Not available |
5 | R121W | 2 years: knee pain and valgus deformity | No | Relatively normal at 14 years of age | Small epiphyses and broad femoral necks at 9 years of age | Normal at 14 years of age | Flattened distal radial epiphysis at 14 years of age |
6 | R121W | 5 years (II-1 and II-5): knee pain and progressive genu valga | Yes | Small epiphyses with irregular contours at 7 years of age | Coxa vara, small epiphyses and short moral necks at 7 years of age | Wedge shaped lumbar vertebral bodies at 7 years of age | Not available |
7 | R121W | 2 years (III-1), 15 years (II-2), 10 years (II-1), 9 years (I-1): knee pain and waddling gait | No | Relatively normal at 15 years of age | Very flat epiphyses and short femoral necks at 15 years of age | Not available | Not available |