Bruck syndrome: osteogenesis imperfecta and arthrogryposis multiplex congenita.
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.
Yapicioğlu
H
H
Division of Neonatology, Department of Pediatrics, Faculty of Medicine, Cukurova University, Adana, Turkey. yyhacer@hotmail.com
Ozcan
K
K
Arikan
O
O
Satar
M
M
Narli
N
N
Ozbek
M H
MH
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
C479138:PLOD2 protein, human; D008240:Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase