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 |