Bruck syndrome: osteogenesis imperfecta and arthrogryposis multiplex congenita


YAPICIOGLU H., OZCAN K., ARIKAN O., SATAR M. , NARLI N. , OZBEK M. N.

ANNALS OF TROPICAL PAEDIATRICS, vol.29, no.2, pp.159-162, 2009 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 29 Issue: 2
  • Publication Date: 2009
  • Doi Number: 10.1179/146532809x440798
  • Title of Journal : ANNALS OF TROPICAL PAEDIATRICS
  • Page Numbers: pp.159-162

Abstract

Bruck syndrome is characterised by osteogenesis imperfecta and arthrogryposis multiplex. In some patients, mutations in the lysyl hydroxylase 2 gene (PLOD2, 3q23-q24) have been demonstrated. A male newborn with Bruck syndrome is reported.