Osteogenesis Imperfecta Follow-up

  • Author: Manoj Ramachandran, MBBS, MRCS, FRCS; Chief Editor: Harris Gellman, MD   more...
 
Updated: Sep 29, 2010
 

Further Outpatient Care

  • Home visits and regular clinic assessments are necessary, particularly in the first few years of life. Postoperatively, close follow up is vital to ensure fracture healing and restoration of function.
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Inpatient & Outpatient Medications

  • See Treatment, Medical Care, above.
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Complications

  • See Treatment, Medical Care and Surgical Care, above.
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Prognosis

  • See the table with the adapted Sillence classification in the Clinical, History section, above.
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Patient Education

  • Patients with osteogenesis imperfecta are generally well motivated and keen to achieve as much as possible despite their physical limitations.
  • Education is extremely important, particularly for those who may respond to their condition in a more negative way and therefore be prone to low self-esteem and depression.
  • Education is also important for parents and families to help them deal with the day-to-day implications and management of the patient's condition.
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Contributor Information and Disclosures
Author

Manoj Ramachandran, MBBS, MRCS, FRCS  Consultant Trauma and Orthopaedic Surgeon, Barts and the London NHS Trust; Honorary Senior Lecturer, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary's, University of London, UK

Manoj Ramachandran, MBBS, MRCS, FRCS is a member of the following medical societies: British Orthopaedic Association

Disclosure: Nothing to disclose.

Coauthor(s)

David H A Jones, MB, ChB, FRCS, FRCS Ed(Orth)  Consultant Orthopedic Surgeon, Great Ormond Street Hospital for Children; Senior Clinical Lecturer, University College London Hospitals, UK

David H A Jones, MB, ChB, FRCS, FRCS Ed(Orth) is a member of the following medical societies: British Orthopaedic Association

Disclosure: Nothing to disclose.

Pramod Achan, MBBS, FRCS(Orth)  Senior Registrar, Royal National Orthopaedic Hospital, UK

Disclosure: Nothing to disclose.

Peter R Calder, MBBS, FRCS(Eng), FRCS (Tr&Orth)  Consulting Surgeon, Department of Pediatric Orthopedic Surgery, The Royal National Orthopaedic Hospital, UK

Peter R Calder, MBBS, FRCS(Eng), FRCS (Tr&Orth) is a member of the following medical societies: British Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Ian D Dickey, MD, FRCSC  Adjunct Professor, Department of Chemical and Biological Engineering, University of Maine; Consulting Staff, Adult Reconstruction, Orthopedic Oncology, Department of Orthopedics, Eastern Maine Medical Center

Ian D Dickey, MD, FRCSC is a member of the following medical societies: American Academy of Orthopaedic Surgeons, British Columbia Medical Association, Canadian Medical Association, and Royal College of Physicians and Surgeons of Canada

Disclosure: Stryker Orthopaedics Consulting fee Consulting; Cadence Honoraria Speaking and teaching

Dinesh Patel, MD, FACS  Associate Clinical Professor of Orthopedic Surgery, Harvard Medical School; Chief of Arthroscopic Surgery, Department of Orthopedic Surgery, Massachusetts General Hospital

Dinesh Patel, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons

Disclosure: Nothing to disclose.

Chief Editor

Harris Gellman, MD  Consulting Surgeon, Broward Hand Center; Voluntary Clinical Professor of Orthopedic Surgery and Plastic Surgery, Departments of Orthopedic Surgery and Surgery, University of Miami, Leonard M Miller School of Medicine

Harris Gellman, MD is a member of the following medical societies: American Academy of Medical Acupuncture, American Academy of Orthopaedic Surgeons, American Orthopaedic Association, American Society for Surgery of the Hand, and Arkansas Medical Society

Disclosure: Nothing to disclose.

References

  1. Smith R, Francis MJ, Houghton GR. The brittle bone syndrome. In: Osteogenesis Imperfecta. London: Butterworth. 1983.

  2. Brusin JH. Osteogenesis imperfecta. Radiol Technol. Jul-Aug 2008;79(6):535-48. [Medline].

  3. Cole WG. The Nicholas Andry Award-1996. The molecular pathology of osteogenesis imperfecta. Clin Orthop. Oct 1997;235-48. [Medline].

  4. Cole WG. Advances in osteogenesis imperfecta. Clin Orthop. Aug 2002;6-16. [Medline].

  5. Cole WG. Bone, cartilage and fibrous tissue disorders. In: Benson MKD, Fixsen JA, MacNicol MF, Parch K, eds. Children's Orthopaedics. 2002: 67-92.

  6. Baujat G, Lebre AS, Cormier-Daire V, Le Merrer M. [Osteogenesis imperfecta, diagnosis information (clinical and genetic classification)]. Arch Pediatr. Jun 2008;15(5):789-91. [Medline].

  7. Sillence D. Osteogenesis imperfecta: an expanding panorama of variants. Clin Orthop. Sep 1981;11-25. [Medline].

  8. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. Apr 1979;16(2):101-16. [Medline].

  9. Labuda M, Morissette J, Ward LM. Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. Bone. Jul 2002;31(1):19-25. [Medline].

  10. Ward LM, Rauch F, Travers R. Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. Bone. Jul 2002;31(1):12-8. [Medline].

  11. Duro Friedl EA, Ferrari Mayans L, Desalvo Portal LN, Ferrari Ruiz P, Bidondo Horno MP, Astraldi Tellechea MM. [Bruck syndrome: Osteogenesis imperfecta with congenital joint contractures.]. An Pediatr (Barc). Jul 2008;69(1):90-1. [Medline].

  12. Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, et al. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. Apr 9 2010;86(4):551-9. [Medline]. [Full Text].

  13. Francis MJ, Smith R, Bauze RJ. Instability of polymeric skin collagen in osteogenesis imperfecta. Br Med J. Mar 9 1974;1(905):421-4. [Medline].

  14. Jones D, Hosalkar H, Jones S. The orthopaedic management of osteogenesis imperfecta. Clin Orthop. 2002;16:374-88.

  15. Zeitlin L, Fassier F, Glorieux FH. Modern approach to children with osteogenesis imperfecta. J Pediatr Orthop B. Mar 2003;12(2):77-87. [Medline].

  16. Forin V. [Paediatric osteogenesis imperfecta: medical and physical treatment]. Arch Pediatr. Jun 2008;15(5):792-3. [Medline].

  17. Sofield HA, Page MA, Mead NC. Multiple osteotomies and metal-rod fixation for osteogenesis imperfecta. J Bone Joint Surg. 1952;34A:500-2.

  18. Wekre LL, Frøslie KF, Haugen L, Falch JA. A population-based study of demographical variables and ability to perform activities of daily living in adults with osteogenesis imperfecta. Disabil Rehabil. 2010;32(7):579-87. [Medline].

  19. Glorieux FH, Bishop NJ, Plotkin H, et al. Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med. Oct 1 1998;339(14):947-52. [Medline].

  20. Shapiro JR, Thompson CB, Wu Y, Nunes M, Gillen C. Bone Mineral Density and Fracture Rate in Response to Intravenous and Oral Bisphosphonates in Adult Osteogenesis Imperfecta. Calcif Tissue Int. Jun 11 2010;[Medline].

  21. Gallego L, Junquera L, Pelaz A, Costilla S. Pathological mandibular fracture after simple molar extraction in a patient with osteogenesis imperfecta treated with alendronate. Med Oral Patol Oral Cir Bucal. Jun 1 2010;[Medline].

  22. Salehpour S, Tavakkoli S. Cyclic pamidronate therapy in children with osteogenesis imperfecta. J Pediatr Endocrinol Metab. Jan-Feb 2010;23(1-2):73-80. [Medline].

 
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Table. Adapted Sillence Classification of Osteogenesis Imperfecta
TypeGeneticTeethBone FragilityBone DeformityScleraSpineSkullPrognosis
IAAD*NormalVariable but less severe than other typesModerateBlue20% Scoliosis and kyphosisWormian bonesFair
IBADDentinogenesis imperfectaNA†NANANANANA
IIADUnknownVery severeMultiple fracturesBlueNAWormian bones with absence of ossificationPerinatal death
IIIADDentinogenesis imperfectaSevereProgressive bowing of long bones and spineBluish at birth but white in adultsKyphoscoliosisHypoplastic wormian bonesWheelchair-bound, nonambulatory
IVAADNormalModerateModerateWhiteKyphoscoliosisHypoplastic wormian bonesFair
IVBADDentinogenesis imperfectaNANANANANANA
* AD indicates autosomal dominant.



† NA indicates not applicable.



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