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Table 1 Osteogenesis imperfecta classifications

Table 1 Osteogenesis imperfecta classifications

author: Shamit S Prabhu,Kevin Fortier,Michael C May,Uday N Reebye | publisher: drg. Andreas Tjandra, Sp. Perio, FISID

Table 1 Osteogenesis imperfecta classifications

Type Inheritance Gene Locus Clinical features OMIM
I AD COL1A1 or COL1A2 17q21.33 or 7q21.3 Variable bone fragility, moderate bone deformity, blue sclerae, possible dentinogenesis imperfecta 166,200
II AD COL1A1 or COL1A2 17q21.33 or 7q21.3 Perinatally lethal 166,210
III 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 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 AD IFITM5 11p15.5 Moderate to severe bone fragility, radial head dislocation, normal to blue sclerae, normal dentin 610,967
VI AR SERPINF1 17p13.3 Moderately to severe deformity, fish-scale pattern of lamellae, excessive osteoid, normal dentin 613,982
VII AR CRTAP 3p22.3 Severe bone fragility, progressively deforming, normal sclerae, severe rhizomelia and coxa vera, normal dentin 610,682
VIII AR LEPRE1 1p34.2 Severe bone fragility, normal sclerae, bulbous metaphyses, round face, short barrel-shaped chest 610,915
IX AR PPIB 15q22.31 Severe bone deformity, gray sclerae 259,440
X AR SERPINH1 11q13.5 Multiple bone deformities and fractures, osteopenia, dentinogenesis imperfecta, blue sclerae 613,848
XI AR FKBP10 17q21.2 Mild to severe bone deformity, normal to gray sclerae 610,968
XII AR SP7 12q13.13 Mild bone deformity, normal dentin, normal hearing, normal sclerae 613,849
XIII AR BMP1 8p21.3 Severe growth deficiency, severe bone deformity, normal dentin, light blue sclerae 614,856
XIV AR TMEM38B 9q31.2 Variable bone deformity, variable osteopenia, normal dentin, normal sclerae, normal hearing 615,066
XV AR WNT1 12q13.12 Severe bone deformity, short stature, early and recurrent fractures, normal dentin, possible blue sclerae, normal hearing 615,220
XVI AR CREB3L1 11p11.2 Severe bone deformity, beaded ribs, callus formation, cardiac irregularities 616,229
XVII 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

 

 

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Share: Posted 2021-03-16 08:18:36
Osteogenesis imperfecta type I Implant therapy Brittle bone disease
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