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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.