Table 4.
Clinical characteristics of the study population after molecular testing divided by OI type.
| OI type I | OI type IV | OI type III | p-Value | |
|---|---|---|---|---|
| Number of patients | 55 | 23 | 38 | n/a |
| Sex, M/F | 27/28 | 10/13 | 18/20 | n/a |
| Age | 4 mo–46 yo | 3–37 yo | 6 mo–37 yo | n/a |
| Height (centile) | <3 to 97 | <3 to 25–50 | <3 to 3–10 | n/a |
| No. of fractures | 0–38 | 2–40 | 1–130 | n/a |
| No. of fractures per year | 0–3.13 | 0.06–3.67 | 0.46–15.38 | n/a |
| Prenatal deformations/fractures | 1/54 (2%) | 5/17 (29%) | 35/37 (95%) | <0.05 |
| Vertebral fractures | 21/53 (40%) | 6/23 (26%) | 3/37 (8%) | <0.05 |
| Chest deformations | 12/54 (22%) | 12/23 (52%) | 30/38 (79%) | <0.05 |
| Upper limbs deformations | 9/54 (17%) | 8/23 (35%) | 34/38 (89%) | <0.05 |
| Lower limbs deformations | 16/54 (30%) | 16/23 (70%) | 38/38 (100%) | <0.05 |
| Mobility problems | 8/55 (16%) | 9/23 (43%) | 25/29 (86%) | <0.05 |
| Triangular shaped face | 13/53 (25%) | 8/20 (40%) | 24/37 (65%) | <0.05 |
| Dentinogenesis imperfecta | 8/55 (15%) | 13/23 (59%) | 25/38 (74%) | <0.05 |
| Blue sclerae | 50/54 (93%) | 18/23 (78%) | 35/38 (92%) | >0.05 |
| Hearing impairment | 5/55 (9%) | 3/23 (14%) | 5/38 (13%) | >0.05 |
| Osteopenia/osteoporosis | 33/45 (73%) | 18/22 (82%) | 21/21 (100%) | >0.05 |
| Pharmacological treatment | 14/55 (28%) | 15/23 (75%) | 35/38 (92%) | n/a |
| Inheritance F/S/U | 29/6/20 | 7/6/10 | 2/18/18 | n/a |
mo, months old; yo, years old; F, familial; S, sporadic, U, unknown, n/a, not analyzed.
Differences in total number of patients for particular features are caused by missing data or when assessment was not applicable.