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Annals of Tropical Paediatrics
International Child Health
Volume 29, 2009 - Issue 2
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Case Reports

Bruck syndrome: osteogenesis imperfecta and arthrogryposis multiplex congenita

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Pages 159-162 | Published online: 18 Jul 2013

References

  • Viljoen D, Versfeld G, Beighton P. Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome). Clin Genet 1989; 36:122–6.
  • Bruck A. Ueber eine seltene Form von Erkrankung der Knochen und Gelenke. Dtsch Med Wschr 1897; 23:152–5.
  • Sharma NL, Anand JS. Osteogenesis imperfecta with arthrogryposis multiplex congenita. J Indian Med Assoc 1964; 43:124–6.
  • Brenner RE, Vetter U, Muller PK, Teller WM. Defective collagen fibril formation and mineralization in osteogenesis imperfecta with congenital joint contractures. Eur J Pediatr 1993; 152:505–8.
  • McPherson E, Clemens M. Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): review and report on the first North American case. Am J Med Genet 1997; 70:28–31.
  • Brady AF, Patton MA. Osteogenesis imperfecta with arthrogryposis multiplex congenita (Bruck syndrome): evidence for possible autosomal recessive inheritance. Clin Dysmorphol 1997; 6:329–36.
  • Breslau-Siderius EJ, Engelbert RHB, Pals G, van der Sluijs HA. Bruck syndrome: a rare combination of bone fragility and multiple congenital joint contractures. J Pediatr Orthop B 1998; 7:35–8.
  • Leroy JG, Nuytinck L, De Paepe A, et al. Bruck syndrome: neonatal presentation and natural course in three patients. Pediatr Radiol 1998; 28:781–9.
  • Blacksin MF, Fletcher BA, David M. Osteogenesis imperfecta with joint contractures: Bruck syndrome. Pediatr Radiol 1998; 28:117–19.
  • Mokete L, Robertson A, Viljoen D, Beighton P. Bruck syndrome: congenital joint contractures with bone fragility. J Orthop Sci 2005; 10:641–6.
  • 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. Proc Natl Acad Sci USA 1999; 96:1054–8.
  • Datta VK, Sinha A, Saili A, Nangia S. Bruck syndrome. Indian J Pediatr 2005; 72:441–2.
  • Ha-vinh R, Alanay Y, Bank RA, et al. 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; 131:115–20.
  • Marini JC. Osteogenesis imperfecta. In: Behrman RE, Kliegman RM, Jenson HB, eds. Nelson Textbook of Pediatrics, 17th edn. Philadelphia: Saunders, 2004; 2336–8.
  • Dimeglio LA. Pediatric bone diseases. In: Pescovitz OH, Eugster EA, eds. Pediatric Endocrinology, Mechanisms, Manifestations and Management. Philadelphia: Lippincott Williams & Wilkins, 2004; 671–81.
  • Uzawa K, Grzesik WJ, Nishiura T, et al. Differential expression of human lysyl hydroxylase genes, lysine hydroxylation and cross linking of type I collagen during osteoblastic differentiation in vitro. J Bone Miner Res 1999; 14:1272–80.
  • van der Slot AJ, Zuurmond AM, Bardoel AF, et al. Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis. J Biol Chem 2003; 278:40967–72.
  • Berg C, Geipel A, Noack F, et al. Prenatal diagnosis of Bruck syndrome. Prenat Diagn 2005; 25:535–8.
  • Cuillier F, Alessandri JL, Lemaire P, et al. Bruck syndrome: second antenatal diagnosis. Fetal Diagn Ther 2007; 22:23–8.

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