Bruck syndrome: a case report

封面


如何引用文章

全文:

详细

The article describes the clinical case of an infant with Bruck syndrome. The clinical and radiological analyses showed the presence of systemic osteoporosis with pathological fractures; contractures of the elbow, knee, and ankle joints; delay of physical and motor development; and signs of hypoplasia in some of the muscle groups. There was also a right-sided congenital muscular torticollis. X-ray analysis revealed a moderate antecurvation deformity of the lower legs and femurs, with cortical thinning. Laboratory data detected an abnormal beta-cross lap increase.Treatment of osteoporosis by inhibitors of osteoclastic resorption (pamidronate) had a positive effect, and the elimination of flexion contractures at the elbow using plaster bandages with the distraction device also resulted in a positive effect.

作者简介

Dmitry 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 Kostik

The Ministry of Health of Russia, St. Petersburg Saint-Petersburg State Pediatric Medical University

MD, PhD, associate professor of the chair pediatrics hospital Saint-Petersburg State Pediatric Medical University

Olga 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 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

参考

  1. Bruck A. Ueber eine seltene Form von Erkrankung der Knochen und Gelenke. Dtsch Med Wschr. 1897;23: 152-155. doi: 10.1055/s-0029-1204900.
  2. Datta V, Sinha A, Saili A, Nangia S. Bruck syndrome. Indian J Pediatr. 2005;72(5):441-2. doi: 10.1007/bf02731745.
  3. Sharma NL, Anand JS. Osteogenesis imperfecta with arthrogryposis multiplex congenita. Indian Med J. 1964;53:124-126.
  4. 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.
  5. 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.
  6. 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.
  7. 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
  8. 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

补充文件

附件文件
动作
1. JATS XML
下载

版权所有 © Buklaev D.S., Kostik M.M., Agranovich O.E., Trofimova S.I., 2015

Creative Commons License
此作品已接受知识共享署名 4.0国际许可协议的许可
СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).
Регистрационный номер и дата принятия решения о регистрации СМИ: серия ПИ № ФС77-54261 от 24 мая 2013 г.


##common.cookie##