Genetics of Osteogenesis Imperfecta Follow-up

Updated: Sep 06, 2016
  • Author: Eric T Rush, MD, FAAP, FACMG; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
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Further Outpatient Care

Physical therapy in osteogenesis imperfecta (OI)

  • Therapy should be directed toward improving joint mobility and developing muscle strength
  • Overall, emphasize the achievement of functional ability.
  • Independence is the main objective of therapy.

Periodic nutritional evaluation and intervention

Periodic evaluation and intervention by an occupational therapist (OT) and/or a physical therapist (PT)

Patients with osteogenesis imperfecta require scrupulous oral hygiene and frequent follow-up with a pediatric dentist who is familiar with the disorder. Patients with dentinogenesis imperfecta often have chipping and fracturing of their teeth, which can become carious. These patients require capping of the affected teeth to preserve chewing integrity.



Repeated respiratory infections can be a complication of severe osteogenesis imperfecta.

Basilar impression can cause brainstem compression, and is a major neurologic complication in a child with osteogenesis imperfecta. This is most commonly observed in children with very severe osteogenesis imperfecta.

Hydrocephalus can be seen in patients with osteogenesis imperfecta. It can be communicating or noncommunicating and sometimes requires CSF shunting. [41] Providers should be aware of increasing head size in patients and should also be sensitive to symptoms suggesting increased intracranial pressure.

Cerebral hemorrhage caused by birth trauma is another possible complication.

Patients with osteogenesis imperfecta should be considered to be at high risk for complications of anesthesia, although they are not particularly prone to have malignant hyperthermia. Patients with osteogenesis imperfecta have a high basal metabolism that may cause hyperthermia during anesthesia but is almost never malignant. In fact, only one case of malignant hyperthermia in a child with osteogenesis imperfecta is described in the literature, and that particular patient had a family history of malignant hyperthermia.



The life expectancy of subjects with nonlethal osteogenesis imperfecta appears to be the same as that for the healthy population, except for those with severe osteogenesis imperfecta with respiratory or neurologic complications. However, even individuals with severe osteogenesis imperfecta can survive until adulthood. Modern multidisciplinary treatment of patients with this condition has improved quality of life and mobility for children and adolescents with severe osteogenesis imperfecta and it appears likely that lifespans will be correspondingly influenced in a beneficial manner.


Patient Education

Parents need special instructions in positioning the child in the crib and in handling the child while minimizing the risk of fractures.