Table 1 Clinical features, treatment regimens and response to bisphosphonate treatment
Case | Gender- Age (yr)a | NOTCH2 mutation | Fracture Details | Treatment Regimen | Scan interval (years) | Lumbar spine z-score | Acro-osteolysis | ||
|---|---|---|---|---|---|---|---|---|---|
Before | After | Before | After | ||||||
1 | F 6 | c.7198C > T p.R2400X | Metatarsal | Pamidronate 3 mg/kg/3 m | 6 | − 3.1 | − 1.3 | Right hand | No response |
2b | F 8 | p.Pro2149Argfs + 2× | Metatarsals, long bones, platybasia | Pamidronate 3 mg/kg/4 m for 1½ yr | 1½ | −1.7 | − 0.3 | Hands | Worse |
F 24 | Zoledronate 5 mg × 1 | 2½ | −2.9 | − 2.5 | Hands | Not recorded | |||
3 | F 11 | Clinical | Vertebral | Alendronate 35 mg/wk. (2 yr) then 70 mg/wk | 5 | −5.6 | −2.6 | Not recorded | Not recorded |
4 | F 15 | c.6387delT p.S2129RfsX7 | Vertebral, basilar invagination | Pamidronate 3 mg/kg/3 m | 3 | −4.4 | −4.5 | Hands and feet | No response |
5 | F 35 | Clinical | None | Zoledronate 5 mg/yr | 4 | −3.2 | −2.8 | Not recorded | Not recorded |
6 | M 36 | c.6272delT p.F2091SfsX4 | Vertebral compression | Alendronate 10 mg/day | 6 | −3.0 | −4.5 | Hands and feet | No response |
7 | M 39 | p.Pro2150fs | Vertebral biconcavity, metatarsal | Pamidronate 30–60 mg/3 m (8 yr); 2 yr. no Rx, then Zoledronate 4–5 mg/6 m (5 yr) | 8½ | −3.6 | − 3.0 | Hands and feet | Hands worse - feet no change |