Table 4.
The structural and symptomatic bone phenotype of high bone mass cases compared with unaffected relatives and spouses
| n (555) | HBM n (%; n = 355) | Control n (%; n = 200) | Unadjusted OR (95% CI) | Unadjusted p value | Adjusted OR (95% CI)h | Adjusted p valueh | |
|---|---|---|---|---|---|---|---|
| The structural bone phenotype | |||||||
| Mandible enlargement | 431 | 106 (37.9) | 24 (15.9) | 3.22 (1.96, 5.31) | <0.001 | 4.16 (2.34, 7.39) | <0.001 |
| Broad frame | 352 | 119 (55.9) | 52 (37.4) | 2.12 (1.37, 3.28) | 0.001 | 3.55 (2.12, 5.95) | <0.001 |
| Shoe size (UK sizing)a | 463 | 7.1 (6.9, 7.3) | 7.9 (7.6, 8.2) | −0.8 (−1.2, −0.4) | <0.001 | 0.4 (0.1, 0.7) | 0.009 |
| Misshapen or extra bone reported | 545 | 64 (18.2) | 26 (13.4) | 1.47 (0.88, 2.46) | 0.137 | 1.77 (1.00, 3.14) | 0.051 |
| Misshapen or extra bone on examinationb | 421 | 59 (21.6) | 21 (14.2) | 1.67 (0.97, 2.87) | 0.066 | 2.07 (1.13, 3.78) | 0.018 |
| Torus palatinus and torus mandibularis | 449 | 92 (31.5) | 49 (31.2) | 1.01 (0.67, 1.54) | 0.949 | 1.50 (0.92, 2.44) | 0.106 |
| Dental overcrowding | 483 | 93 (30.0) | 60 (34.7) | 0.81 (0.54, 1.20) | 0.291 | 0.84 (0.53, 1.32) | 0.447 |
| Report of oral structural abnormalityc | 546 | 29 (8.3) | 10 (5.1) | 1.69 (0.79, 3.61) | 0.172 | 2.05 (0.89, 4.70) | 0.091 |
| Webbing of toes | 391 | 13 (5.2) | 6 (4.2) | 1.25 (0.46, 3.36) | 0.660 | 1.56 (0.50, 4.90) | 0.442 |
| Hammer toes | 501 | 44 (13.4) | 9 (5.2) | 2.80 (1.33, 5.87) | 0.007 | 2.17 (0.96, 4.91) | 0.063 |
| Carpal tunnel syndromed | 555 | 21 (5.9) | 5 (2.5) | 2.56 (0.92, 7.07) | 0.070 | 1.98 (0.69, 5.68) | 0.203 |
| Abnormal spine | 408 | 106 (40.3) | 35 (24.1) | 2.12 (1.35, 3.34) | 0.001 | 1.68 (0.99, 2.85) | 0.053 |
| Spinal kyphosis | 501 | 25 (7.6) | 10 (5.8) | 1.33 (0.62, 2.84) | 0.458 | 0.81 (0.34, 1.90) | 0.627 |
| Spinal scoliosis | 501 | 19 (5.8) | 3 (1.7) | 3.47 (1.00, 12.05) | 0.050 | 3.35 (0.87, 12.87) | 0.078 |
| Categories of buoyancy | |||||||
| Floats | 517 | 171 (48.6) | 143 (72.6) | 1.00 | <0.001 | 1.00 | <0.001 |
| Struggles to float | 26 (7.4) | 16 (8.1) | 1.39 (0.69, 2.81) | 1.93 (0.89, 4.19) | |||
| Sinks | 116 (33)g | 15 (7.6) | 6.98 (3.77, 12.92) | 7.11 (3.65, 13.84) | |||
| Unable to swim | 19 (5.4) | 11 (5.6) | 1.45 (0.64, 3.28) | 1.09 (0.42, 2.82) | |||
| Fracture history | |||||||
| Ever fractured | 550 | 134 (38) | 90 (45.7) | 0.72 (0.50, 1.04) | 0.080 | 1.03 (0.67, 1.56)i | 0.908i |
| Fragility fracture | 224 | 19 (14.2) | 16 (17.8) | 0.76 (0.37, 1.58) | 0.468 | 0.56 (0.24, 1.29)i | 0.173i |
| RTA-related fracture | 224 | 12 (9.0) | 5 (5.6) | 1.67 (0.57, 4.92) | 0.351 | 1.09 (0.30, 4.04)i | 0.892i |
| Fracture after aged 45 | 541 | 40 (11.6) | 17 (8.7) | 1.38 (0.75, 2.54) | 0.304 | 0.88 (0.43, 1.81)i | 0.733i |
| Family history of fracture | 499 | 150 (46.2) | 97 (55.7) | 0.68 (0.47, 0.99) | 0.041 | 0.62 (0.41, 0.95) | 0.027 |
| The symptomatic bone phenotype | |||||||
| Mandible paine | 550 | 39 (11.0) | 6 (3.0) | 4.29 (1.73, 10.63) | 0.002 | 3.57 (1.37, 9.28) | 0.009 |
| Limb/bone painf | 548 | 41 (11.6) | 5 (2.6) | 5.16 (1.98, 13.50) | 0.001 | 5.06 (1.84, 13.88) | 0.002 |
| Joint pain | 535 | 297 (86.6) | 151 (78.6) | 1.80 (1.11, 2.91) | 0.017 | 1.04 (0.61, 1.79) | 0.873 |
| Skull pain, headaches or migraine | 536 | 46 (13.4) | 14 (7.3) | 1.99 (1.05, 3.77) | 0.036 | 2.04 (1.03, 4.03) | 0.041 |
| Reduced exercise tolerance | 543 | 111 (31.8) | 17 (8.8) | 5.25 (2.94, 9.37) | <0.001 | 3.30 (1.81, 6.04) | <0.001 |
| Abnormal gait | 497 | 75 (23.0) | 16 (9.4) | 2.90 (1.62, 5.20) | <0.001 | 1.39 (0.73, 2.65) | 0.323 |
OR clustered odds ratio, CI confidence interval, RTA road traffic accident
aMeans and mean differences given for this continuous variable
bIncludes increased bone at sites of tendon and ligament insertion (tibial tuberosity, patella boarder, calcaneus at point of Achilles tendon, head of the fibula and clavicle, olecranon, ulna styloid, radial head, navicular bone, MCP, PIP), bony swelling within ribs/costocartilage junctions, focal increases in bone over the tibia and skull, global increases in skull size, prognatism, asymmetry of the mandible, chest wall, orbits and scapulae, including Sprengel’s and Madelung’s deformities, camptodactyly, abnormally shaped patellae and pelvis, congenitally short digits, metacarpals and absent bone in toes
cOral structural abnormalities include eruption of extra sets of teeth, failure of eruption of adult teeth, persistent milk teeth into adulthood, eruption of teeth through palate, convex palate, cleft palate, extra bone in mouth
dCarpal tunnel syndrome reported or previously operated
eExcluding isolated temporomandibular pain
fPain within bones, rather than pain within joints
gTwo HBM cases reported sinking in the Dead Sea despite the sea’s high specific gravity
hAdjusted for age at recruitment, gender
iAdjusted for age at recruitment, gender, years since menopause and oestrogen replacement use