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Osteogenesis Imperfecta Symptoms

Type 1 (Type I) Osteogenesis Imperfecta Symptoms
Common symptoms seen with this mild type of OI can include:
 
  • Bones predisposed to fracture; most fractures occur before puberty
  • Normal or near-normal stature
  • Loose joints and muscle weakness
  • Sclera (whites of the eyes) usually have a blue, purple, or gray tint
  • Triangular face
  • Tendency toward spinal curvature
  • Bone deformity absent or minimal
  • Brittle teeth possible
  • Hearing loss possible, often beginning in early 20s or 30s
  • Collagen structure is normal, but the amount is less than normal.
     
Type 2 (Type II) Osteogenesis Imperfecta Symptoms
Common symptoms seen with this very severe type of OI can include:
 
  • Frequently lethal at or shortly after birth, often due to respiratory problems; in recent years, some people with Type II have lived into young adulthood
  • Numerous fractures and severe bone deformity
  • Small stature with underdeveloped lungs
  • Collagen improperly formed.
     
Type 3 (Type III) Osteogenesis Imperfecta Symptoms
Common symptoms seen with this severe type of OI can include the following:
 
  • Bones fracture easily; fractures often present at birth, and x-rays may reveal healed fractures that occurred before birth
  • Short stature
  • Sclera have a blue, purple, or gray tint
  • Loose joints and poor muscle development in arms and legs
  • Barrel-shaped rib cage
  • Triangular face
  • Spinal curvature
  • Respiratory problems possible
  • Bone deformity, often severe
  • Brittle teeth possible
  • Hearing loss possible
  • Collagen improperly formed.
     
Type 4 (Type IV) Osteogenesis Imperfecta Symptoms
Type IV osteogenesis imperfecta is between Type I and Type III in severity. Common symptoms of osteogenesis imperfecta seen with this type of OI can include:
 
  • Bones fracture easily, most before puberty
  • Shorter than average stature
  • Sclera are white or near-white (i.e., normal in color)
  • Mild to moderate bone deformity
  • Tendency toward spinal curvature
  • Barrel-shaped rib cage
  • Triangular face
  • Brittle teeth possible
  • Hearing loss possible
  • Collagen improperly formed.
     
Type 5 (Type V) and Type 6 (Type VI) Osteogenesis Imperfecta Symptoms
For a number of years, investigators have been conducting special studies on the appearance of OI bone under the microscope. They noticed that some people who are clinically within the type IV group had a distinct pattern to their bone. When they reviewed the full medical history of these individuals, they found that groups had other features in common. They named these groups types V and VI OI. Patients in these two groups do not have evidence of having mutations in the type I collagen genes.
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