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

Prabhu, Shamit S.; Fortier, Kevin; May, Michael C.; Reebye, Uday N.

doi:10.1186/s40729-018-0148-0

International Journal of Implant Dentistry

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

AD autosomal dominant, AR autosomal recessive, OMIM Online Mendelian Inheritance in Man

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