My Life as I Know It !!!

• People with OI Type IV are moderately affected. Type IV can range in severity from relatively few fractures, as in OI Type I, to a more severe form resembling OI Type III.
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  The diagnosis can be made at birth but often occurs later.
  
  The child might not fracture until he or she is walking.
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  People with OI Type IV have moderate-to-severe growth retardation, which is one factor that distinguishes them clinically from people with Type I.
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  Bowing of the long bones is common, but to a lesser extent than in Type III.
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  The sclerae are often light blue in infancy, but the color intensity varies. The sclerae may lighten to white later in childhood or early adulthood.
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  The child’s height may be less-than-average for his or her age.
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  It is common for the humerus and femur to be short
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  Long bone fractures, vertebral compression, scoliosis, and ligament laxity may also be present.
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  Dentinogenesis imperfecta may be present or absent.
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  OI Type IV has an autosomal dominant pattern of inheritance. Many cases are the result of a new mutation.
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  This type is characterized by structurally defective type I collagen. This poor quality type I collagen is present in reduced amounts in the bone matrix.
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  Significant care issues that arise with OI Type IV include the need to prevent fracture cycles; the appropriate timing of rodding surgery; scoliosis monitoring; the need to develop strategies for coping with short stature and fatigue; the family’s need for emotional support, especially during infancy; and the off-label use of bisphosphonates.
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  Family members should carry documentation of the OI diagnosis to avoid accusations of child abuse at emergency rooms.
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  It is also important to address difficulties with social integration, participation in leisure activities, and maintaining stamina.

• The treatment plan should maximize mobility and function, increase peak bone mass and muscle strength, and employ as much exercise and physical activity as possible.

Microscopic studies of OI bone identified a subset of people who are clinically within the OI Type IV group but have distinctive patterns to their bone. Review of the clinical histories of these people uncovered other common features. As a result of this research, two types Type V and Type VI were added to the Sillence Classification. Regarding these types, it is important to note the following:

• They do not involve deficits of type 1 collagen.
• Treatment issues are similar to OI Type IV.
• Diagnosis requires specific radiographic and bone studies.