eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Osteogenesis Imperfecta: Follow-up

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

Follow-up

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)

Complications

  • Repeated respiratory infections are complications of 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 severe osteogenesis imperfecta.
  • Cerebral hemorrhage caused by birth trauma is another 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.

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.

Patient Education

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

Miscellaneous

Medicolegal Pitfalls

  • Differentiating between osteogenesis imperfecta (OI) and child abuse is important. Mild osteogenesis imperfecta is most likely to be confused with child abuse.8 The sclera and teeth are normal in many patients with osteogenesis imperfecta. A family history is often not present.
  • Keys to differentiate osteogenesis imperfecta from child abuse if no other stigmata of osteogenesis imperfecta are present include the following:
    • Consider the types of fractures. Although any type of long bone fracture can occur in osteogenesis imperfecta, certain types are rare. Metaphyseal corner fractures, which are common in child abuse, are rare in osteogenesis imperfecta.
    • In children with osteogenesis imperfecta, fractures may continue to occur while they are in protective custody; however, this scenario is hard to evaluate.
    • Child abuse can also be differentiated from osteogenesis imperfecta on the basis of nonskeletal manifestations, such as retinal hemorrhage, visceral intramural hematomas, intracranial bleeds of various ages, pancreatitis, and splenic trauma.
  • Collagen analysis is useful in difficult cases, but a negative result does not rule out osteogenesis imperfecta.
  • Osteogenesis imperfecta and child abuse can coexist.
 


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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