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Clinical characteristics of autosomal recessive Stickler syndrome caused by mutations in the COL9A3 gene
| Characteristic | Faletra et al. (2014) | Hanson‐Kahn et al. (2018) | Nixon et al. (2019) | Present study |
|---|---|---|---|---|
| Mid‐facial hypoplasia | + | No data | − | + |
| Cleft palate | − | − | − | − |
| High myopia | + | + | + | + |
| Vitreoretinal degeneration | − | − | +/− | + |
| Retinal detachment | − | − | − | − |
| Sensorineural hearing loss | + | + | + | + |
| Spondylo/epiphyseal dysplasia | + | + | +/− | + |
| Early‐onset osteoarthritis | − | − | +/− | + |
