♥ OI Type I is the mildest and most common form of the disorder. It accounts
for 50 percent of the total OI population.
♥ Type I is characterized with mild bone fragility, relatively few fractures, and
minimal limb deformities. The child might not fracture until he or she is
learning to walk.
♥ Shoulders and elbow dislocations may occur more frequently than in healthy
children.
♥ Some children have few obvious signs of OI or fractures. Others experience
multiple fractures of the long bones, compression fractures of the vertebrae,
and chronic pain.
♥ The intervals between fractures may vary considerably.
♥ After growth is completed, the incidence of fractures decreases considerably.
♥ Blue sclerae are often present.
♥ Typically, a child’s stature may be average or slightly shorter-than-average as
compared with unaffected family members, but is still within the normal
range for the age.
♥ There is a high incidence of hearing loss. Onset occurs primarily in young
adulthood, but it may occur in early childhood.
♥ Dentinogenesis imperfecta is often absent.
♥ OI Type I is dominantly inherited. It can be inherited from an affected parent,
or, in previously unaffected families, it results from a spontaneous mutation.
Spontaneous mutations are common.
♥ Biochemical tests on cultured skin fibroblasts show a lower-than-normal
amount of type I collagen. Collagen structure is normal.
♥ People with OI Type I experience the psychological burden of appearing normal
and healthy to the casual observer despite needing to accommodate their bone
fragility.
♥ The absence of obvious symptoms in some children may contribute to problems
at school or with peers.
♥ Significant care issues that arise with OI Type I include gross motor
developmental delays, joint and ligament weakness and instability,
muscle weakness, the need to prevent fracture cycles, and the necessity
of spine protection.
♥ Family members should carry documentation of the OI diagnosis to avoid
accusations of child abuse at emergency rooms.
♥ Treatment with bisphosphonates is not routinely recommended.
♥ The treatment plan should maximize mobility and function, increase peak
bone mass, and develop muscle strength.
♥ Physical therapy, early intervention programs, and as much exercise and
physical activity as possible will improve outcomes.
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