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Excerpted from the GeneReview: COL1A1/2-Related Osteogenesis Imperfecta
COL1A1/2-related osteogenesis imperfecta (OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-related OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone, but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent and wear down and break easily. COL1A1/2-related OI has been classified into four types (I, II, III, and IV) based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four OI types are now referred to as follows: OI type I: classic non-deforming OI with blue sclerae. OI type II: perinatally lethal OI. OI type III: progressively deforming OI. OI type IV: common variable OI with normal sclerae.

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  • Also known as: EDSARTH1, EDSC, OI1, OI2, OI3, OI4, COL1A1
    Summary: collagen type I alpha 1 chain

  • Also known as: EDSARTH2, EDSCV, OI4, COL1A2
    Summary: collagen type I alpha 2 chain

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