title: Bruck syndrome: osteogenesis imperfecta and arthrogryposis multiplex congenita.
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.
authors.affiliation: Division of Neonatology, Department of Pediatrics, Faculty of Medicine, Cukurova University, Adana, Turkey. yyhacer@hotmail.com
authors.forename: H
authors.initials: H
authors.lastname: Yapicioğlu
authors.forename: K
authors.initials: K
authors.lastname: Ozcan
authors.forename: O
authors.initials: O
authors.lastname: Arikan
authors.forename: M
authors.initials: M
authors.lastname: Satar
authors.forename: N
authors.initials: N
authors.lastname: Narli
authors.forename: M H
authors.initials: MH
authors.lastname: Ozbek
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001176:Arthrogryposis / Q000175:diagnosis*; D003241:Consanguinity; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008297:Male; D010013:Osteogenesis Imperfecta / Q000175:diagnosis*; D008240:Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase / Q000235:genetics; D013577:Syndrome
chemical_list: C479138:PLOD2 protein, human; D008240:Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase