Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans

2011 ◽  
Vol 155 (6) ◽  
pp. 1448-1452 ◽  
Author(s):  
Ranad Shaheen ◽  
Mohammed Al-Owain ◽  
Eissa Faqeih ◽  
Nadia Al-Hashmi ◽  
Ali Awaji ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Bruck Syndrome

Osteogenesis imperfecta with joint contractures: Bruck syndrome

1998 ◽  
Vol 28 (2) ◽  
pp. 117-119 ◽  
Author(s):  
M. F. Blacksin ◽  
Beth A. Pletcher ◽  
Miriam David
Keyword(s):  
Osteogenesis Imperfecta ◽  
Joint Contractures ◽  
Bruck Syndrome

scholarly journals Bruck Syndrome: A Rare Disorder in New-Born with Fractures and Contractures

2018 ◽  
Vol 37 (3) ◽  
pp. 276-279
Author(s):  
Suraj Dhaubhadel ◽  
Bimala Baniya ◽  
Hema Joshi ◽  
Ram Hari Chapagain ◽  
Krishna Prasad Paudel
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Femur Fracture ◽  
Bone Fragility ◽  
Rare Disorder ◽  
Arthrogryposis Multiplex Congenita ◽  
Joint Contractures ◽  
New Born ◽  
Bruck Syndrome

Bruck syndrome is a very rare autosomal recessive syndrome consisting of bone fragility and congenital joint contractures. It is considered as a combination of arthrogryposis multiplex congenita and osteogenesis imperfecta, while some consider it as the autosomal recessive variant of osteogenesis imperfecta. According to the genotype, it has been classified into types 1 and 2. To our knowledge, only about 28 patients of this syndrome have been reported so far worldwide with none been reported from Nepal. Here, we present a patient with generalized osteopenia, bilateral femur fracture and congenital joint contractures of distal extremities.

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

2012 ◽  
Vol 33 (10) ◽  
pp. 1444-1449 ◽  
Author(s):  
Maria Trinidad Puig-Hervás ◽  
Samia Temtamy ◽  
Mona Aglan ◽  
Maria Valencia ◽  
Víctor Martínez-Glez ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Connective Tissue Disorders ◽  
Phenotypic Spectrum ◽  
Bruck Syndrome

Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study

2015 ◽  
Vol 27 (1) ◽  
pp. 81-92 ◽  
Author(s):  
G. A. Otaify ◽  
M. S. Aglan ◽  
M. M. Ibrahim ◽  
M. Elnashar ◽  
R. A. S. El Banna ◽  
...  
Keyword(s):  
Zoledronic Acid ◽  
Observational Study ◽  
Osteogenesis Imperfecta ◽  
Prospective Observational Study ◽  
Bruck Syndrome

Osteogenesis imperfecta with congenital joint contractures (Bruck Syndrome)

2008 ◽  
Vol 36 (2) ◽  
pp. 122-126 ◽  
Author(s):  
Denis Viljoen ◽  
Gerry Versfeld ◽  
Peter Beighton
Keyword(s):  
Osteogenesis Imperfecta ◽  
Joint Contractures ◽  
Bruck Syndrome

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation inPLOD2

2004 ◽  
Vol 131A (2) ◽  
pp. 115-120 ◽  
Author(s):  
Russia Ha-Vinh ◽  
Yasemin Alanay ◽  
Ruud A. Bank ◽  
Ana Belinda Campos-Xavier ◽  
Andreas Zankl ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Molecular Characterization ◽  
Recessive Mutation ◽  
Bruck Syndrome

scholarly journals Abnormal Bone Collagen Cross‐Linking in Osteogenesis Imperfecta/Bruck Syndrome Caused by Compound Heterozygous PLOD2 Mutations

JBMR Plus ◽  
2021 ◽  
Author(s):  
Charlotte Gistelinck ◽  
MaryAnn Weis ◽  
Jyoti Rai ◽  
Ulrike Schwarze ◽  
Dmitriy Niyazov ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Bone Collagen ◽  
Cross Linking ◽  
Compound Heterozygous ◽  
Bruck Syndrome ◽  
Collagen Cross Linking
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