Table 2.
Clinical characteristics of spondyloepiphyseal dysplasia congenita patients carried variation p.G504S in COL2A1
| Family number | II3 | I2 | II2 | III1 | Family 1 | Family 2 | Family 3 | Family 4 | Family 5 | Family 6 | Family 7 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Country (Ethnicity) | China (Li) | China (Li) | China (Li) | China (Li) | China (Han) | China (Han) | China (Han) | Japan | Japan | Japan | China (Han) |
| patients/family size | 4/7 | 1/3 | 9/21 | 9/35 | 1/1 | 1/1 | 1/4 | 1/1 | |||
| Generations | 3 (Het) | De novo | 4 (Het) | 4 (Het) | Sporadic | Sporadic | De novo | sporadic | |||
| Gender | F | F | F | M | M | F | F | M | M | F | M |
| Age | 21y | 51y | 28y | 3y | 13y | 27 m | 53y | 24y | 60y | 2y | 9y |
| Height (cm) | 125 | 133 | 143 | 75 | 116.5 | 80.5 | NA | 137.2 | 151 | 72.6 | NA |
| Weight (kg) | 30 | 35 | 42 | 8.5 | NA | NA | NA | NA | NA | 10.6 | NA |
| Intelligence | − | − | − | − | − | NA | NA | NA | NA | NA | NA |
| Bone or joint pain | + | + | + | − | + | − | NA | NA | NA | NA | NA |
| Waddling gait | + | + | + | − | + | − | + | NA | NA | NA | NA |
| Short trunk | + | + | + | + | + | + | + | + | + | + | + |
| Short neck | + | + | + | + | + | NA | + | NA | NA | NA | NA |
| Midfacial dysplasia | + | + | + | + | − | − | NA | NA | NA | − | NA |
| Cleft palate | − | − | − | − | − | − | − | − | − | − | NA |
| Thoracocyllosis | + | − | − | + | − | − | − | − | − | − | NA |
| Scoliosis | + | − | − | − | + | − | + | + | + | − | NA |
| Kyphosis | + | + | + | − | − | − | − | + | + | − | NA |
| Platyspondyly | − | − | − | − | + | − | + | NA | NA | + | NA |
| Elbow deformity | + | − | − | − | − | NA | NA | NA | NA | NA | NA |
| Wrist deformity | + | − | − | − | − | NA | NA | NA | NA | NA | NA |
| Acetabulum abnormality | + | + | + | − | + | − | + | NA | NA | + | NA |
| Femoral head disease | + | + | + | − | + | − | + | NA | NA | + | NA |
| Sacrum cracked | + | − | − | − | − | − | − | NA | NA | − | NA |
| Myopia | + | − | − | − | − | − | − | − | − | + | NA |
| Retinal detachment | + | − | − | − | − | − | − | − | − | NA | NA |
| Hearing impairment | + | + | − | − | − | − | − | − | − | − | NA |
| ossicles deformity | + | − | − | − | NA | NA | NA | NA | NA | NA | NA |
| Variations | G504S | G504S | G504S | G504S | G504S | G504S | G504S | G504S | G504S | G504S/G612A | G504S |
| Literature | This study | This study | This study | This study | Xu et al. 2020 | LH et al. 2012 | Xia et al. 2007 | Nishimura et al. 2005 | Nishimura et al. 2005 | Kawano et al. 2015 | Zhang et al. 2015 |
*NA: not available, +: present, −: absent