All individuals with variants in gene KDELR2

7 entries on 1 page. Showing entries 1 - 7.
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00314754 P1 Journal: Van Dijk 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - - - - - OI first assessment 5y; height 130 cm; no confirmed prenatal fractures; no wormian bones; 40m-first fracture; 12 fractures; 10y-last fracture right femur; white sclera; no dentinogenesis imperfecta; hypermobility of joints; no hearing impairment; barrel shaped chest with pectus excavatum; no cardiac abnormalities; vertebral fractures; no scoliosis; no bowing of upper extremities; no bowing of lower extremities; no shortening of upper extremities; no shortening of lower extremities; surgical correction for bone deformation; mobile; no intellectual disability 1 1 Johan den Dunnen
00314755 P2-1 Journal: Van Dijk 2020 5-generation family, affected sister/brother, unaffected parents F yes Netherlands - - - - - OI first assessment 29y; height 121 cm; no confirmed prenatal fractures; 32m-first fracture; 26 fractures; 28y-last fracture right femur right, 29y-right femoral neck; white sclera; no dentinogenesis imperfecta; hypermobility of joints; no hearing impairment; barrel shaped chest with pectus excavatum; no cardiac abnormalities; vertebral fractures; scoliosis; bowing of upper extremities; bowing of lower extremities; shortening of upper extremities; shortening of lower extremities; surgical correction for bone deformation; 4.5y-wheelchair bound; no intellectual disability 1 2 Johan den Dunnen
00314756 P2-2a Journal: Van Dijk 2020 brother M yes Netherlands - - - - - OI height 115 cm; no confirmed prenatal fractures; 25y-15 fractures; white sclera; no dentinogenesis imperfecta; no hearing impairment; chest deformity; cardiac abnormalities; scoliosis; bowing of upper extremities; bowing of lower extremities; shortening of upper extremities; shortening of lower extremities; surgical correction for bone deformation; wheelchair bound; no intellectual disability 1 1 Johan den Dunnen
00314757 P3 Journal: Van Dijk 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Spain - - - - - OI first assessment 1.5m; height 138 cm; no confirmed prenatal fractures; wormian bones; 24m-first fracture; >30 fractures; 37y-last fracture right femur; white sclera; no dentinogenesis imperfecta; hypermobility of joints; no hearing impairment; bell shaped chest; vertebral fractures; scoliosis; bowing of upper extremities; bowing of lower extremities; shortening of upper extremities; shortening of lower extremities; surgical correction for bone deformation; 18y-wheelchair bound; no intellectual disability 1 2 Johan den Dunnen
00314758 P4-1 Journal: Van Dijk 2020 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F no Netherlands - - - - - OI first assessment 24wgestation; confirmed prenatal fractures; <0d-first fracture (in utero); no chest deformity; no cardiac abnormalities; no scoliosis; no bowing of upper extremities; bowing of lower extremities; shortening of upper extremities; shortening of lower extremities 2 2 Johan den Dunnen
00314759 P4-2 Journal: Van Dijk 2020 brother M no Netherlands - - - - - OI confirmed prenatal fractures; <0d-first fracture (in utero); no chest deformity; no cardiac abnormalities; no scoliosis; no bowing of upper extremities; bowing of lower extremities; shortening of upper extremities; shortening of lower extremities 2 1 Johan den Dunnen
00373655 Fam2Pat3 PubMed: Efthymiou 2021 2-generation family, 1 affected, unaffected heterozygous first-cousin carrier parents M yes Turkey - - - - - OI height 83.5 cm (−3), weight 10.2 kg (−3.5), OFC 50.5 cm (1.1); Wormian bones; prenatal fractures, 21d-first fracture, >2 sustained fractures, 4y-last fracture; sclera blue; dentinogenesis imperfecta; joint hypermobility; no hearing impairment; Barrel shaped chest deformity, asymmetrical mild carinatum, increased A‐P; mild mitral and tricuspid regurgitation; vertebral fractures; scoliosis; no bowing of upper extremities, bowing of lower extremities, no shortening of upper extremities, no shortening of lower extremities, no surgical correction for bone deformation; 2m-bisphosphonate treatment; no vascular abnormalities; normal skin/nails; CT head normal; mobility walks; hypotonia; no muscle weakness; speech delay; motor delay; 2 family miscarriages 1 1 Johan den Dunnen
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