eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Osteogenesis Imperfecta: Treatment & Medication

Author: Horacio Plotkin, MD, FAAP, Adjunct Associate Professor of Pediatrics and Orthopedic Surgery, University of Nebraska School of Medicine
Contributor Information and Disclosures

Updated: Oct 15, 2009

Treatment

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.5 Doses vary from 4.5-9 mg/kg/y, depending on the protocol used.
  • Current evidence does not support the use of oral bisphosphonates in patients with osteogenesis imperfecta. Alendronate decreases predicted material properties and has detrimental effects on osteoblasts and bone formation in mice with osteogenesis imperfecta. Risedronate may have some effect in reducing fractures in patients with osteogenesis imperfecta.6
  • 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.7 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 that he or she might otherwise. Use of the new extensible Fassier-Duval rods has shown promising results in these patients.
    • 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 may be helpful. Pretreatment with pamidronate appears to improve the surgical outcome.

Consultations

  • 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, pneumologist, and nephrologist, among others.
  • Offer genetic counseling to the parents of a child with osteogenesis imperfecta who plan to have more children. During genetic counseling, the possibility of germline mosaicism must be discussed.

Diet

  • Adequate calcium, vitamin D, and phosphorus intake are paramount.
  • Caloric management is necessary in nonambulatory patients with severe osteogenesis imperfecta.

Activity

  • Parents need special instructions in handling affected children.
  • Parents 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.

Medication

More on Osteogenesis Imperfecta

Overview: Osteogenesis Imperfecta
Differential Diagnoses & Workup: Osteogenesis Imperfecta
Treatment & Medication: Osteogenesis Imperfecta
Follow-up: Osteogenesis Imperfecta
Multimedia: Osteogenesis Imperfecta
References
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References

  1. Plotkin H. Syndromes with congenital brittle bones. BioMed Central Pediatrics. 2004;4 (16):[Medline]. [Full Text].

  2. Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, et al. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell. 2006;127:291-304. [Medline].

  3. Pillion JP, Shapiro J. Audiological findings in osteogenesis imperfecta. J Am Acad Audiol. Sep 2008;19(8):595-601. [Medline].

  4. Rauch F, Travers R, Parfitt AM, Glorieux FH. Static and dynamic bone hystomorphometry in children with osteogenesis imperfecta. Bone. 2000;26:581-9. [Medline].

  5. Rauch F, Munns C, Land C, Glorieux FH. Pamidronate in Children and Adolescents with Osteogenesis Imperfecta: Effect of Treatment Discontinuation. J Clin Endocrinol Metab. 2006;91:1268-74. [Medline].

  6. Castillo H, Samson-Fang L,. Effects of bisphosphonates in children with osteogenesis imperfecta: an AACPDM systematic review. Dev Med Child Neurol. Jan 2009;51(1):17-29. [Medline].

  7. Esposito P, Plotkin H. Surgical treatment of osteogenesis imperfecta: current concepts. Curr Opin Pediatr. Feb 2008;20(1):52-7. [Medline].

  8. [Guideline] Kellogg ND. Evaluation of suspected child physical abuse. Pediatrics. Jun 2007;119(6):1232-41. [Medline]. [Full Text].

  9. Plotkin H. Two questions about osteogenesis imperfecta. J Ped Orthop. 2006;26:148-149. [Medline].

  10. Plotkin H, Primorac D, Rowe D. Osteogenesis imperfecta. In: Glorieux F, Pettifor J, Juppner J, eds. Pediatric Bone: Biology and Disease. 2003:443-71.

  11. Plotkin, H. Syndromes with brittle bones, hyperostotic bone disease and fibrous dysplasia of bone. In: Lifshitz F, ed. Pediatric Endocrinology. 5th ed. 2006.

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Further Reading

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Keywords

osteogenesis imperfecta, OI, fragile bone disease, brittle bones, brittle bone disease, broken bones, osteoporosis, bone fragility, syndromes resembling osteogenesis imperfecta, SROI, osteochondrodysplasia, osteoporosis, rhizomelia, aspirin-responsible expansile bone disease, osteoporosis pseudoglioma syndrome, Cole-Carpenter syndrome, craniosynostosis, ocular proptosis, hydrocephalus, Bruck syndrome, deafness, progeria, cleidocranial dysplasia, Menkes syndrome, cutis laxa, Cheney syndrome, pyknodysostosis, dentinogenesis imperfecta, kyphoscoliosis, hearing loss, premature arcus senilis, easy bruising, pulmonary hypoplasia, vertigo, hypercalciuria

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Contributor Information and Disclosures

Author

Horacio Plotkin, MD, FAAP, Adjunct Associate Professor of Pediatrics and Orthopedic Surgery, University of Nebraska School of Medicine
Horacio Plotkin, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics
Disclosure: Genzyme Corporation Salary Management position

Medical Editor

Erawati V Bawle, MD, FAAP, FACMG, Division of Genetic and Metabolic Disorders, Children's Hospital of Michigan; Professor (Clinician-Educator), Department of Pediatrics, Wayne State University School of Medicine
Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, American Medical Association, and American Society of Human Genetics
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Robert Anthony Saul, MD, Clinical Professor, Department of Pediatrics, University of South Carolina; Senior Clinical Geneticist, Greenwood Genetic Center
Robert Anthony Saul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, and American College of Physician Executives
Disclosure: Nothing to disclose.

CME Editor

Daniel Rauch, MD, FAAP, Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine
Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine
Disclosure: Baxter Honoraria Consulting

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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