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Annals of Tropical Paediatrics
International Child Health
Volume 29, 2009 - Issue 2
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Case Reports

Bruck syndrome: osteogenesis imperfecta and arthrogryposis multiplex congenita

H. YapicioğluDivision of Neonatology Department of Pediatrics, Faculty of Medicine, Çukurova University, Adana, Turkey
,
K. ÖzcanDivision of Neonatology Department of Pediatrics, Faculty of Medicine, Çukurova University, Adana, Turkey
,
Ö ArikanDivision of Neonatology Department of Pediatrics, Faculty of Medicine, Çukurova University, Adana, Turkey
,
M. SatarDivision of Neonatology Department of Pediatrics, Faculty of Medicine, Çukurova University, Adana, Turkey
,
N. NarliDivision of Neonatology Department of Pediatrics, Faculty of Medicine, Çukurova University, Adana, Turkey
&
M. H. ÖzbekDivision of Endocrinology & Metabolism Department of Pediatrics, Faculty of Medicine, Çukurova University, Adana, Turkey
Pages 159-162 | Published online: 18 Jul 2013
 
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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.

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