Table 1. Summary of the clinical features in the family members.
| Aunt (II-1) | Mother (II-5) | Proband (III-7) | |
|---|---|---|---|
| Short stature (s.d.) | −4.5 | −4.5 | −5.5 |
| Walking | No problem | No problem | Crutch using |
| Frequency of bone fracture | >10 times | <10 times | >30 times |
| Bone deformity | − | − | Secondarily |
| Blue sclera | + | + | + |
| Basal skull compression | NT | NT | – |
| Heart disease | NT | NT | MR, AR |
| Fragility of capillary | Unknown | Easy occurrence of subcutaneous hemorrhage | Easy occurrence of subcutaneous hemorrhage |
| Scoliosis | NT | − | Severe |
| Tendon relaxity | + | + | + |
| Dentinogenesis imperfecta | NT | NT | Spontaneous teeth fracture |
| COL1A1 mutation | NT | + | + |
| Other complications | − | − | Chronic gastritis, esophageal hiatal hernia, gastroesophageal reflux disease, bronchial asthma |
| Treatment | Unknown | Alfacalcidol, teriparatide, calcium lactate | Eldecalcidol, carbedilol, esomeprazole, aspirin, budesonide/eformoterol |
Abbreviations: AR, aortic regurgitation; MR, mitral regurgitation; NT, not tested.