Bruck syndrome: a case report
- Authors: Buklaev D.S.1, Kostik M.M.2, Agranovich O.E.1, Trofimova S.I.1
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Affiliations:
- The Turner Institute for Children’s Orthopedics, Saint-Petersburg, Russian Federation
- The Ministry of Health of Russia, St. Petersburg Saint-Petersburg State Pediatric Medical University
- Issue: Vol 3, No 3 (2015)
- Pages: 44-47
- Section: Articles
- Submitted: 21.10.2015
- Published: 15.09.2015
- URL: https://journals.eco-vector.com/turner/article/view/473
- DOI: https://doi.org/10.17816/PTORS3344-47
- ID: 473
Cite item
Abstract
Keywords
About the authors
Dmitry Stepanovich Buklaev
The Turner Institute for Children’s Orthopedics, Saint-Petersburg, Russian Federation
Email: dsbukl@mail.ru
MD, PhD, chief of the department of arthrogryposis. The Turner Scientific and Research Institute for Children’s Orthopedics
Mikhail Mikhailovich Kostik
The Ministry of Health of Russia, St. Petersburg Saint-Petersburg State Pediatric Medical UniversityMD, PhD, associate professor of the chair pediatrics hospital Saint-Petersburg State Pediatric Medical University
Olga Evgenievna Agranovich
The Turner Institute for Children’s Orthopedics, Saint-Petersburg, Russian Federation
Email: olga_agranovich@yahoo.com
MD, PhD, professor, head of the department of arthrogryposis. The Turner Scientific and Research Institute for Children’s Orthopedics, Saint-Petersburg, Russian Federation
Svetlana Ivanovna Trofimova
The Turner Institute for Children’s Orthopedics, Saint-Petersburg, Russian Federation
Email: trofimova_sv2012@mail.ru
MD, Ph.D, research associate of the department of arthrogryposis. The Turner Scientific and Research Institute for Children’s Orthopedics
References
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- Datta V, Sinha A, Saili A, Nangia S. Bruck syndrome. Indian J Pediatr. 2005;72(5):441-2. doi: 10.1007/bf02731745.
- Sharma NL, Anand JS. Osteogenesis imperfecta with arthrogryposis multiplex congenita. Indian Med J. 1964;53:124-126.
- Viljoen D, Versfeld G, Beighton P. Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome). Clin Genet. 1989;36:122-126. doi: 10.1111/j.1399-0004.1989.tb03174.x.
- Ha-Vinh R, Alanay Y, Bank RA, et. Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. Am J Med Genet. 2004;131A:115-120. doi: 10.1002/ajmg.a.30231.
- Kelley BP, Malfait F, Bonafe L, et al. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res. 2011;26:666-672. doi: 10.1002/jbmr.250.
- Bank RA, Robins SP, Wijmenga C, et al. Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: Indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17. Proceedings of the National Academy of Sciences. Proceedings of the National Academy of Sciences; 1999;96(3):1054-8. doi: 10.1073/pnas.96.3.1054
- Shaheen R, Al-Owain M, Faqeih E, et al. Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. Am J Med Genet. 2011;155A:1448-1452. doi: 10.1002/ajmg.a.34025