ANNALS OF TROPICAL PAEDIATRICS, cilt.29, sa.2, ss.159-162, 2009 (SCI-Expanded)
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.