Table 4.
Initial presenting symptom(s), age in years when symptom(s) first observed and at diagnosis (median and range), and time from each symptom presentation to diagnosis.
| Initial Symptom | Number with symptom* | Age symptom first observed (years) | Age at diagnosis (years) | Time to diagnosis from initial symptom (years) |
|---|---|---|---|---|
| Any | 33 in 15 patients | |||
| Family History | 5 | NA | 6.0 (1–18) | NA |
| Physical appearance | 5 | 5 (1.25–7) | 7.0 (1.25–10) | 1.67 |
| Joint stiffness/ restricted range of motion | 5 | 6 (4–6) | 8.0 (1.25–10) | 1.40 |
| Cardiac symptoms | 3 | 4 (2–6) | 6.0 (4–8) | 2.00 |
| Chronic ear infections | 3 | 1 (0.33–3) | 5.5 (4–6) | 3.72 |
| Respiratory symptoms | 3 | 2 (1–4) | 2.3 (2–5.5) | 0.93 |
| Development delay | 2 | 2.5 (1.5,3.5) | 2.75 (2, 3.5) | 0.25 |
| Hearing loss | 2 | 4 (1,7) | 8.0 (8,8) | 4.00 |
| Skeletal abnormality | 2 | 3.75 (3.5,4) | 3.75 (3.5,4) | 0.00 |
| Organomegaly | 1 | 2 | 2.30 | 0.30 |
| Contractures (fingers) | 1 | 8 | 8.00 | 0.00 |
| Rash | 1 | 4 | 6.00 | 2.00 |
*
cumulative for 15 patients who were not diagnosed by family history