Genetics of Osteogenesis Imperfecta Follow-up

Updated: Aug 02, 2021
  • Author: Eric T Rush, MD, FAAP; Chief Editor: Luis O Rohena, MD, PhD, 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. [58] 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 individuals with nonlethal osteogenesis imperfecta has been studied only to a limited extent and, with exception of patients with severe OI, has been assumed to approach that of the general population. An early study, by Paterson et al, which analyzed survival in over 700 patients in England and Wales, found that patients with OI type IA had a life expectancy indistinguishable from that of the general population, while patients with OI type IB and OI type IV had a life expectancy that was modestly lower than that of the general population. However, patients with type III OI had significantly reduced life expectancy compared with the general population and had a notable excess of deaths for patients below age 10 years, presumably due to pulmonary disease. [59]

An investigation by McAllion and Paterson into the causes of death in OI showed an excess of cardiopulmonary disease in patients with Type III OI, which was felt to be related to alteration in thoracic anatomy and kyphoscoliosis. Several deaths due to complications from basilar invagination were also noted in this study cohort. [60]  Subsequent and comprehensive investigations of OI-associated mortality and its causes in Denmark have shown an all-cause mortality ratio of 2.9 compared with the general population. Life expectancy for males with OI was 9.5 years shorter than that for the general population (72.4 years vs 81.9 years), and for females, was 7.1 years shorter than that for the general population (77.4 years vs 84.5 years). Patients with OI had excess mortality from pulmonary and gastrointestinal disease and an increased risk of death from trauma. [61, 62]  Despite such data, it is reasonably anticipated that modern multidisciplinary treatment of patients with OI will result in better outcomes and longer life expectancy.


Patient Education

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