Bruck syndrome: a case report

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Abstract

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.

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 University

MD, 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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  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.
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  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

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Copyright (c) 2015 Buklaev D.S., Kostik M.M., Agranovich O.E., Trofimova S.I.

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