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Osteogenesis Imperfecta (OI) is a congenital connective tissue disorder that causes fragile bones and skeletal deformities. This disease affects one in every 5,000-10,000 infants. There does not seem to be an ethnic or racial preference.

There are 4 types of OI, and the severity of symptoms depends on the type:

  • Type 1: The most common type of OI, characterized by bone fractures, a bluish tint to the whites of the eyes, adult onset hearing loss, and sometimes dental problems.
  • Type 2: Usually lethal in the perinatal period, resulting in a miscarriage.
  • Type 3: Characterized by severe thinning of the bones leading to osteopenia, multiple fractures, progressive bone deformity, and short stature.
  • Type 4: The most rare type of OI, characterized by fractures, bone and teeth deformities, and short stature.

OI can be inherited from a parent who has the disease, but many cases are due to new mutations in the gene, meaning neither parent is affected, but the child has the genetic defect. Infants and children suspected of having the disorder can have blood work sent to identify and confirm the defective gene.

Often, OI is initially mistaken for child abuse, particularly for the infant or child who comes to medical attention with unexplained or multiple fractures. If the pediatrician finds clues that do not fit with abuse, an evaluation for OI will be undertaken with blood work and x-rays.

Regardless of the type of OI, most patients have at least some impairment in their daily life. Some patients undergo physical therapy and rehabilitation to improve range of joint motion and muscle strength. More severely affected patients will eventually be confined to a walker or wheelchair. Surgical correction of bone fractures or deformities can be attempted, but in severe cases of OI, fractures can occur simply from moving the patient on and off the table or with the use of the blood pressure cuff. More recent therapies include medical treatments aimed at improving bone mass and strength. Specific IV medications known as bisphosphonates can be used every 4-6 months to increase the thickness of the bones.

Takeaways

  • OI can be inherited from a parent who has the disease, or the infant could have the genetic defect due to new mutations in the gene.
  • Sometimes OI is mistaken for child abuse due to unexplained bone fractures.
  • Severely affected patients will eventually be confined to a walker or wheelchair.

References

  1. ACMG Practice Guideline. Genetic evaluation of suspected osteogenesis imperfecta.
  2. Medscape. Osteogenesis Imperfecta Treatment & Management.
  3. Pediatrics. Osteogenesis Imperfecta in Childhood.

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