Genetics of Osteogenesis Imperfecta Treatment & Management

Updated: Aug 02, 2021
  • Author: Eric T Rush, MD, FAAP; Chief Editor: Luis O Rohena, MD, PhD, FAAP, FACMG  more...
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Medical Care

Because osteogenesis imperfecta (OI) is a genetic condition, it has no cure.

Cyclic administration of intravenous pamidronate reduces the incidence of fracture and increases bone mineral density, while reducing pain and increasing energy levels. [7]  Intravenous zoledronate has been increasingly used in children with OI, given its shorter infusion times and longer infusion intervals. Observational studies have shown similar effects to that of pamidronate, with increased bone mineral density, decreased fracture rate, and improvement in pain. [8] There is scant evidence supporting the use of bisphosphonates in adults with OI, although they continue to be widely used; anecdotally, some patients experience a subjective decrease in pain. [9]  The bisphosphonate risedronate may have some effect in reducing fractures in patients with osteogenesis imperfecta. [10]

A preclinical study demonstrated that RANKL inhibition improves density and some geometric and biomechanical properties of the oim/oim mouse bone but does not decrease fracture incidence when compared with placebo. [53]  Research into the RANK inhibitor denosumab in patients with type VI OI has produced positive results, [54] although only 2 years of followup have been published. [55]

Nutritional evaluation and intervention are paramount to ensure appropriate intake of calcium and vitamin D. Caloric management is important, particularly in adolescents and adults with severe forms of osteogenesis imperfecta.

In utero transplantation of adult bone marrow has been shown to decrease perinatal lethality in a murine model of osteogenesis imperfecta.


Surgical Care

Orthopedic surgery is one of the pillars of treatment for patients with osteogenesis imperfecta. [11] Surgical interventions include intramedullary rod placement, surgery to manage basilar impression, and correction of scoliosis.

Intramedullary rod placement

In patients with bowed long bones, intramedullary rod placement may improve weight bearing and, thus, enable the child to walk at an earlier age than he or she might otherwise. Use of the extensible Fassier-Duval rod has been very helpful in improving bowing and mobility in patients with osteogenesis imperfecta.

In children appropriately treated with bisphosphonates, the percutaneous technique of multiple osteotomy with intramedullary fixation is safe and effective.

An experienced team can perform as many as 4 rod procedures in the long bones of the lower extremities in one surgical session.

Fractures heal normally in about 85% of patients with osteogenesis imperfecta. Postoperative immobilization is significantly shortened with this technique. Prolonged immobilization after a fracture must be avoided.

Surgery for basilar impression

This procedure is reserved for cases with neurologic deficiencies, especially those caused by compression of brainstem and high cervical cord. A team of orthopedic surgeons and neurosurgeons is required.

Correction of scoliosis

Correction of scoliosis may be difficult because of bone fragility. Spinal fusion surgery can be beneficial in patients with severe disease. [56]



See the list below:

  • Care of patients with osteogenesis imperfecta is multidisciplinary. Team members may include an occupational therapist (OT), a physical therapist (PT), nutritionist, an audiologist, an orthopedic surgeon, neurosurgeon, geneticist, endocrinologist, pulmonologist, and nephrologist, among others.

  • Offer genetic counseling to the parents of a child with osteogenesis imperfecta. During genetic counseling, the possibility of germline mosaicism must be discussed, as this mechanism is responsible in some patients with apparent new dominant mutation. Additionally, the possibility of recessive disease must be discussed, as the recurrence risk would be significantly different in this case.



See the list below:

  • Adequate calcium, vitamin D, and phosphorus intake are paramount.

  • Caloric management is necessary in nonambulatory patients with severe osteogenesis imperfecta.



Parents need special instructions in handling affected children. They need to know how to position the child in the crib and how hold the child to avoid causing fractures, while maintaining bonding and physical stimulation.

Patients have varying degrees of physical ability but should be encouraged to be as active as they can safely be.