Demographics and Clinical Information
| Patient . | Age at Onset of Symptoms, y . | Age at Correct Diagnosis, y . | Symptoms at Onset . | Other Symptoms . |
|---|---|---|---|---|
| A | 3 | 10 | Hip dysplasia; femoral head avascular necrosis | Heart valves thickness; dysostosis multiplex; corneal opacity hip dysplasia |
| B | 5 | 12 | Joint pain; corneal opacity | Carpal tunnel syndrome; dysostosis multiplex |
| C | 5 | 37 | Short stature; joint stiffness | Corneal opacity; hip dysplasia |
| D | 5 | 42 | Short stature; joint stiffness | Corneal opacity; severe hip dysplasia; severe heart disease |
| Patient . | Age at Onset of Symptoms, y . | Age at Correct Diagnosis, y . | Symptoms at Onset . | Other Symptoms . |
|---|---|---|---|---|
| A | 3 | 10 | Hip dysplasia; femoral head avascular necrosis | Heart valves thickness; dysostosis multiplex; corneal opacity hip dysplasia |
| B | 5 | 12 | Joint pain; corneal opacity | Carpal tunnel syndrome; dysostosis multiplex |
| C | 5 | 37 | Short stature; joint stiffness | Corneal opacity; hip dysplasia |
| D | 5 | 42 | Short stature; joint stiffness | Corneal opacity; severe hip dysplasia; severe heart disease |