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Table 1 Clinical data of individuals with OI type V

From: The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V

Individual

Age (years)

Sex

Age at first fracture

Number of clinical fractures

Age at which elbow deformity noted

Age at diagnosis of OI

Age at diagnosis of OI type V

Forearm interosseous membrane calcification and radial head dislocation

Hyperplastic callus

Height (Z-score)

Baseline BMD*

Physical activity

73.3

10

F

Birth

~18

1 month

Birth

5 years

Present

Present

−2.37

TB −2.69, LS −4.87 at 14 months

Walking unaided

88.3

11

M

Birth

>20

4 years

Birth

4 years

Present

Present

0.359

TB −3 at 10 years

Walking unaided

91.3

25

F

3 years

~8

<1 year

9 years

9 years

Present

Absent

−1.171

TB −2.90, LS −2.73 at 6 years

NA

150.3

61

M

6 weeks

>15

30 years

6 weeks

60 years

Present

Absent

−10.69

NA

NA

176.3

14

F

<12 months

~20

NA

13 months

12 years

Present

Present

−3.94

NA

Wheelchair to mobilise

181.3

7

M

<11 months

20-30

NA

13 months

7 years

Present

Present

−1.07

LS −7.8 at 13 months

Walking for 45 min

182.3

8

F

<1 year

~35

4 years

2 years

8 years

Present

Present

−3.0

LS −4.7 at 2 years

Walking for 30 min intervals

185.3

32

F

Never clinically fractured

0

1 month

31 years

31 years

Present

Absent

−2.79

NA

Walking unaided

185.4

5

M

2 years

3

2.5 years

4 years

4 years

Present

Absent

−1.10

NA

Walking unaided

  1. NA = Not available.
  2. *Baseline BMD prior to bisphosphonate therapy expressed as z-score for total body (TB) and/or lumbar spine (LS) taken at the stated age.