Genetics of Osteogenesis Imperfecta Medication

  • Author: Horacio Plotkin, MD, FAAP; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Mar 20, 2012
 
 

Medication Summary

  • See Treatment.
Proceed to Follow-up
 
 
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: Enobia Pharma Salary Management position

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.

Additional Contributors

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.

Alexander A Cacciarelli, MD, FACR Consulting Staff, Department of Radiology, St Joseph's Hospital and Medical Center of Phoenix

Disclosure: Nothing to disclose.

Mandar A Pattekar, MD, MS Consulting Staff, Department of Radiology, Methodist Hospital

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

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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