Genetics of Osteogenesis Imperfecta Follow-up

  • Author: Horacio Plotkin, MD, FAAP; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Mar 2, 2010
 

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)
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Complications

  • Repeated respiratory infections are complications of severe osteogenesis imperfecta.
  • Basilar impression caused by a large head, which causes brainstem compression, is the major neurologic complication in a child with osteogenesis imperfecta. This is most commonly observed in children with very severe osteogenesis imperfecta.
  • 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.
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Prognosis

  • 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.
  • Patients with lethal osteogenesis imperfecta may die in the perinatal period, but individuals with extremely severe osteogenesis imperfecta can survive until adulthood.
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Patient Education

  • Parents need special instructions in positioning the child in the crib and in handling the child while minimizing the risk of fractures.
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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 and American Society of Human Genetics

Disclosure: Genzyme Corporation Salary Management position

Specialty Editor Board

Erawati V Bawle, MD, FAAP, FACMG  Retired Professor, Department of Pediatrics, Wayne State University School of Medicine

Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American College of Medical Genetics and American Society of Human Genetics

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

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.

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 and Genetics, Director RSA, 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.

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. Perez-Perez L, Allegue F, Alfonsin N, Caeiro JL, Fabeiro JM, Zulaica A. An uncommon association: elastosis perforans serpiginosa and osteogenesis imperfecta. J Eur Acad Dermatol Venereol. Feb 2009;23(2):172-4. [Medline].

  4. Hamamy HA, Teebi AS, Oudjhane K, Shegem NN, Ajlouni KM. Severe hypertelorism, midface prominence, prominent/simple ears, severe myopia, borderline intelligence, and bone fragility in two brothers: new syndrome?. Am J Med Genet A. Feb 1 2007;143(3):229-34. [Medline].

  5. Barnes AM, Carter EM, Cabral WA, et al. Lack of Cyclophilin B in Osteogenesis Imperfecta with Normal Collagen Folding. N Engl J Med. Jan 20 2010;[Medline].

  6. Choi JW, Sutor SL, Lindquist L, et al. Severe osteogenesis imperfecta in cyclophilin B-deficient mice. PLoS Genet. Dec 2009;5(12):e1000750. [Medline].

  7. Kamoun-Goldrat AS, Le Merrer MF. Animal models of osteogenesis imperfecta and related syndromes. J Bone Miner Metab. 2007;25(4):211-8. [Medline].

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

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

  10. 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].

  11. 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].

  12. Bargman R, Huang A, Boskey AL, Raggio C, Pleshko N. RANKL Inhibition Improves Bone Properties in a Mouse Model of Osteogenesis Imperfecta. Connect Tissue Res. Jan 6 2010;[Medline].

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

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

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

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

  17. 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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