Bruck syndrome: osteogenesis imperfecta and arthrogryposis multiplex congenita.

摘要

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.