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, cilt.29, sa.2, ss.159-162, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 29 Sayı: 2
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1179/146532809x440798
  • Dergi Adı: ANNALS OF TROPICAL PAEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.159-162
  • Çukurova Üniversitesi Adresli: Evet

Özet

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.