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Types

Authoring team

The four types are as follows:

  • I mild disease
    • blue sclerae
    • mild prepubertal bone fragility
    • little or no deformity
    • mild short stature
    • hearing loss in about 50% of adults
    • dentinogenesis imperfecta may be absent (IA) or present (IB)
    • bruises easily
  • II perinatal lethal
    • blue sclerae
    • in utero fractures
    • micromelia
    • marked long bone deformity
    • platyspondyly
    • lethal in the perinatal period
    • broad but poorly mineralized skull
  • III progressive deforming
    • blue then white sclerae
    • progressing deforming of the long bones and spine secondary to fractures and gravity
    • relative macrocephaly and triangular faces
    • extremely short stature
  • IV moderately severe disease
    • white sclerae
    • moderate fragility and mild to moderate bowing of long bones
    • variable short stature
    • dentinogenesis imperfecta absent (IVA) or present (IVB)

 

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