Table 2.
Detailed Characteristics of Osteogenesis Imperfecta women with fractures during pregnancy and post-partum
| P1 | P2.1 | P2.2 | P3 | P4 | P5 | P6 | P7.1 | P7.2 | P8 | P9 | P10 | P11 | P12 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age at pregnancy-related Fracture | 25 | 32 | 34 | 36 | 26 | 36 | 28 | 39 | 41 | 29 | 34 | 32 | 31 | 31 |
| Number of pregnancy at fracture | 2nd | 1st | 2nd | 1st | 1st | 1st (twins) | 1st | 4th | 5th | 1st | 1st | 1st | 2nd | 1st |
| OI type | NA | I | I | I | I | III | I | I | V | NA | I | I | ||
| Molecular diagnosis | NA | COL1A1 | COL1A1 | COL1A1 | NA | NA | COL1A1 | COL1A2 | IFITM5 | COL1A1 | NA | COL1 | ||
| Age at OI diagnosis (years) | 2 | 32 | NA | 18 | 1 | NA | 39 | 36 years | 1st year | 1 | NA | NA | ||
| Height (cm) | 164 | 157 | 157 | 153 | 155 | 137.5 | 153.5 | 151 | 120 | NA | 158 | 164 | ||
| Weight (kg) | 61 | 48 | 60 | 87 | 42 | 48 | 67 | NA | 40 | NA | 55 | 63 | ||
| BMI | 22.7 | 19.5 | 24.3 | 37.1 | 17.5 | 25.3 | 28.4 | NA | 27.8 | NA | 22.0 | 23.4 | ||
| Blue sclera | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | NA | |
| Deafness | Yes | No | No | Yes | Yes Transmission hearing loss | No | NA | No | No | No | No |
Yes Stapedian prothesis |
NA | |
| Joint Hyperlaxity | Yes | Yes | Yes | No | Yes | Yes | No | Yes | No | No | NA | NA | ||
| Risk factors for osteoporosis | No |
Anorexia 25–28 years old Poor calcium intake until 28 years old |
Smoking | No | No | Immobilization and poor calcium intake | No | 2 months immobilization 1st pregnancy, smoking before and after pregnancy |
1 year immobilization 25 years Smoking stopped at 30 years old |
Crohn’s disease | No | AS | ||
| Other diseases | Anorexia | Ménière, knee sprain | Hypothyroidism | No | NA | Hypertension | Crohn’s disease | Renal stones | Ankylosing spondylitis B27 + , Adalimumab | |||||
| Number of fractures in childhood | 3 | 11–50 | 40 | ≤ 5 | ≤ 5 | ≤ 5 | 6–10 | ≤ 5 | > 50 | 11–50 | 6–10 | 6–10 | ||
| Scoliosis | Yes | No | No | No | NA | Yes | No | No | Yes | Yes | NA | Yes | No | |
| Bone densitometry (Z-score) | NA | Spine—2 DS, hip—1.1DS | Spine—2.DS, hip—1.2DS | Spine—0.4 DS, hip—1 DS | Spine—3.3DS, hip—2.6DS | Spine—1.9 DS, hip—1.2DS | Spine—3.7DS, hip—2.7DS | NA | NA | Spine—2.7DS, hip—2.2DS | Spine—3.DS, hip NA | Spine—5.5DS, hip NA | ||
| Orthopedic surgery | No | Wrist osteosynthesis | No | No | Shoulder dislocation | NA | No | No |
Telescopic intramedullary rod in inferior limbs and Vertebral arthrodesis |
No | No | No | ||
| Time since last fracture | 20 years | 4 years | 2 years | 11 years | 5 years | NA | 8 years | 19 years | 17 years | 1 year | 17 years | 5 years | ||
| History of bisphosphonates | No | No | No | No | No | Yes Pamidronate 10–12 years old | No | No |
Yes Pamidronate 25–26 years old |
No | No | No | ||
| Time since last bisphosphonates | – | – | – | – | – |
Yes 16 years |
– | – | Yes 9 years | – | – | – | ||
| Term of fracture | Pregnancy 3rd trimester | 3rd trimester (8th month) | 3rd trimester (8th month) | Pregnancy term unknown | 30SA | 3rd trimester | 34 SA | 2 months post partum | Back pain 6 months of pregnancy | 1.5 month post partum | 1 month post-partum | 2 weeks post-partum | 6 months post-partum | 6 weeks post-partum |
| Fracture localization | Ankle |
Sacrum (left) |
Sacrum (right) | Ribs (multiple) | Femoral head, trochanter in post partum | Femoral neck Garden 2 | Distal Femur | T10 | T6 T7 T12 L1 L5 | T8 | Wrist | Femoral head | Femoral head | T11 T2 L1 |
| Mechanism of fracture | traumatic | Low trauma (swimming with palms) | Spontaneous | Spontaneous | Spontaneous | Spontaneous | traumatic | Spontaneous | Spontaneous | Low trauma (picking up baby) | Low trauma | Spontaneous | NA | Spontaneous |
| Breastfeeding | No | Yes | Yes | No | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
| Breastfeeding duration (months) | 1 | 1 | 6 | 4 | 0.1 | 18 | 18 | 1.5 | 0.3 | 0.5 | 6 | 1.5 |
Patients 1 to 12 (P1 to P12). P2 and P7 had fractures for two consecutive pregnancies: P2.1 and P2.2; and P7.1 and P7.2