Table 2.
Presentation of 6 cases.
| Nactame | Age | Sex | Inheritance | Orthopedic Features | Non- Orthopedic Features | Family History |
|---|---|---|---|---|---|---|
| Case 1 | 55 years | Male | AD | Left thigh pain; Left femur oblique mid shaft fracture | None | Positive for OP |
| Case 2 | 39 years | Male | AR (intermediate variety) | Subtrochanteric fracture left femur; Hyper dense bones; Lack of medullary differentiation | None | Not known |
| Case 3 | 23 years | Male | AD | Right thigh pain and swelling; Right femur subtrochanteric fracture; thickened cortices; genu valgum bilateral lower limb | Hemophilia A; pallor | Father diagnosed with OP |
| Case 4 | 30 years | Male | AD | Right leg pain; Right tibia stress fracture; Varus deformity right tibia; valgus deformity left tibia, increased cortical thickening compared to previous radiographs; blade plate in right femur with broken distal screw | None | Brother, sister and 5 cousins diagnosed with OP and suffer similar problems |
| Case 5 | 3 Month 15 Days | Male | AR | Midshaft fracture of right clavicle; No intramedullary canal visible; Most bones show whited-out appearance | Tachypnea; Fever; Parathyroid hormone 283 pg/ml | Uncle has OP; 2 Aunts had OP; Parents had consanguineous marriage; Anemia; Deafness; Blindness |
| Case 6 | 58 years | Male | AD | Fracture of elbow (radius) | None | Son diagnosed with OP |