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Table 1 Osteogenesis imperfecta classifications

From: Implant therapy for a patient with osteogenesis imperfecta type I: review of literature with a case report

Type Inheritance Gene Locus Clinical features OMIM
I [1, 4] AD COL1A1 or COL1A2 17q21.33 or 7q21.3 Variable bone fragility, moderate bone deformity, blue sclerae, possible dentinogenesis imperfecta 166,200
II [1, 26] AD COL1A1 or COL1A2 17q21.33 or 7q21.3 Perinatally lethal 166,210
III [1, 27] AD COL1A1 or COL1A2 17q21.33 or 7q21.3 Severe bone fragility, progressively deforming, normal sclerae, dentinogenesis imperfecta, cardiovascular complications, spinal curvature, kyphoscoliosis 259,420
IV [1] AD COL1A1 or COL1A2 17q21.33 or 7q21.3 Moderate bone fragility, moderate deformity, normal sclerae, short stature, possible dentinogenesis imperfecta, kyphoscoliosis 166,220
V [28, 29] AD IFITM5 11p15.5 Moderate to severe bone fragility, radial head dislocation, normal to blue sclerae, normal dentin 610,967
VI [30] AR SERPINF1 17p13.3 Moderately to severe deformity, fish-scale pattern of lamellae, excessive osteoid, normal dentin 613,982
VII [31] AR CRTAP 3p22.3 Severe bone fragility, progressively deforming, normal sclerae, severe rhizomelia and coxa vera, normal dentin 610,682
VIII [32] AR LEPRE1 1p34.2 Severe bone fragility, normal sclerae, bulbous metaphyses, round face, short barrel-shaped chest 610,915
IX [33] AR PPIB 15q22.31 Severe bone deformity, gray sclerae 259,440
X [34] AR SERPINH1 11q13.5 Multiple bone deformities and fractures, osteopenia, dentinogenesis imperfecta, blue sclerae 613,848
XI [35] AR FKBP10 17q21.2 Mild to severe bone deformity, normal to gray sclerae 610,968
XII [36] AR SP7 12q13.13 Mild bone deformity, normal dentin, normal hearing, normal sclerae 613,849
XIII [37] AR BMP1 8p21.3 Severe growth deficiency, severe bone deformity, normal dentin, light blue sclerae 614,856
XIV [38] AR TMEM38B 9q31.2 Variable bone deformity, variable osteopenia, normal dentin, normal sclerae, normal hearing 615,066
XV [39, 40] AR WNT1 12q13.12 Severe bone deformity, short stature, early and recurrent fractures, normal dentin, possible blue sclerae, normal hearing 615,220
XVI [41] AR CREB3L1 11p11.2 Severe bone deformity, beaded ribs, callus formation, cardiac irregularities 616,229
XVII [42] AR SPARC 5q33.1 Progressive severe bone fragility, kyphoscoliosis, mild joint hyperlaxity, short stature 616,507
  1. AD autosomal dominant, AR autosomal recessive, OMIM Online Mendelian Inheritance in Man