Table 1. Clinical characteristics of the patients and their families.
| FM1-1 | FM1-2 | FM2-1 | FM2-2 | FM3-1 | FM4-1 | FM4-2 | FM5-1 | PA-6 | PA-7 | |
|---|---|---|---|---|---|---|---|---|---|---|
| Phenotype | Odonto | Odonto | Childhood | adult | childhood | odonto | adult | childhood | adult | adult |
| Age of onset (ys) | 1 | 1 | 8 mons | 31 | 1 | 1 | NA | 7 | 33 | 53 |
| Gender (F/M) | F | M | F | F | M | M | M | M | M | F |
| Height (cm) | 111.4 (6 y) (≤1SD) | NA | 118 (8 y) (≤3SD) | NA | 160.5 (15 y) (≤2SD) | NA | NA | 166 (43 y) (≤1SD) | 161 (39 y) (≤2SD) | 150 (57 y) (≤2SD) |
| Serum ALP (U/l) | 22 (58–400) | 29 (58–400) | 6 (30–120) | 28 (30–120) | 26 (58–400) | 17 (58–400) | 29 (30–120) | negative | 23 (30–120) | 13 (30–120) |
| BMD | ||||||||||
| L2–L4 (g/cm2) (T/Z score) | NA | NA | 0.504 (0.6)* | NA | 0.500 (−1.5)* | NA | NA | 0.711 (−3.2)† | 0.911 (−1.6)† | 0.961 (−1.5)† |
| Femoral neck (g/cm2) (T/Z score) | NA | NA | 0.560 (0.63)* | NA | 0.401 (−3.74)* | NA | NA | 0.427 (−4.2)† | 0.570 (−3.1)† | 0.763 (−1.4)† |
| Total hip (g/cm2) (T/Z score) | NA | NA | 0.506 (−0.15)* | NA | 0.363 (−4.53)* | NA | NA | 0.401 (−4.5)† | 0.714 (−2.1)† | 0.928 (−0.4)† |
| Clinical characteristics | ||||||||||
| Early deciduous tooth loss | Yes | Yes | Yes | No but sparse teeth | Yes | Yes | No but sparse teeth | Yes | No | No |
| History of fracture | No | No | No | No | Yes (once) | No | No | Yes (three times) | No | No |
| Severity of rickets/ osteomalacia | No | No | Moderate | No | Severe | No | No | Extremely severe | No | No |
| Bone deformity | No | No | Yes (rachitic chest) | No | Yes (rachitic rosary, enlargement of wrists, scoliosis, subluxation of the bilateral hip) | No | No | Yes (rachitic chest, valgum deformity of right genu) | No | No |
| Calcium pyrophosphate dihydrate deposition disease (CPPD) | No | No | No | No | Yes | No | No | Yes (stiffness of the left knee-joint) | Yes (pain in arthrosis; calcific periarthritis) | Yes (pain in left shoulder, wrists and elbows) |
| Skeletal hyperostosis | No | No | No | Yes (slight skeletal hyperostosis in both knee joints) | No | Yes (cortical thickening in fibula and tibia bone) | Yes (cervical bone hyperostosis) | No | Yes (vertebral hyperotosis) | Yes (hyperostosis at thoracic and lumbar vertebra) |
The patient from family was indicated in FM; the sporadic patient was indicated in PA. Abbreviation: NA, not available. ys, years. mons, months
*, The Z scores at L1–L4, femoral neck and total hip of young patients were calculated by comparison with the age-specific BMD reference value of Chinese children and adolescents.
†, The T scores at L1–L4, femoral neck and total hip of adult patients were calculated by comparison with the age- and sex-match adult.