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 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 29 Issue: 2
  • Publication Date: 2009
  • Doi Number: 10.1179/146532809x440798
  • Journal Name: ANNALS OF TROPICAL PAEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.159-162
  • Çukurova University Affiliated: Yes

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.