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Bruck syndrome — a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation
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Abstract
Bruck syndrome is an autosomal recessive syndrome consisting of bone fragility and congenital joint contractures. According to the genotype, it has been classified into types 1 and 2. Recently, mutations in FKBP10, localised to chromosome 17q21, have been identified in some patients of Bruck syndrome. Twenty-seven patients of this syndrome have been reported so far. We present a new patient of this syndrome, with frequent fractures, congenital joint contractures, kyphoscoliosis, bilateral clubfoot, and pectus carinatum. The clinical and genetic features of all previously reported cases are also reviewed. (Endokrynol Pol 2015; 66 (2): 170–174)
Abstract
Bruck syndrome is an autosomal recessive syndrome consisting of bone fragility and congenital joint contractures. According to the genotype, it has been classified into types 1 and 2. Recently, mutations in FKBP10, localised to chromosome 17q21, have been identified in some patients of Bruck syndrome. Twenty-seven patients of this syndrome have been reported so far. We present a new patient of this syndrome, with frequent fractures, congenital joint contractures, kyphoscoliosis, bilateral clubfoot, and pectus carinatum. The clinical and genetic features of all previously reported cases are also reviewed. (Endokrynol Pol 2015; 66 (2): 170–174)
Keywords
Bruck; joint contracture; osteogenesis imperfecta; arthrogryposis; FKBP10 gene novel mutation
About this articleTitle
Bruck syndrome — a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation
Journal
Issue
Article type
Case report
Pages
170-174
Published online
2015-05-01
Page views
6157
Article views/downloads
24482
DOI
10.5603/EP.2015.0024
Pubmed
Bibliographic record
Endokrynol Pol 2015;66(2):170-174.
Keywords
Bruck
joint contracture
osteogenesis imperfecta
arthrogryposis
FKBP10 gene novel mutation
Authors
Hossein Moravej
Hamdollah Karamifar
Zohreh Karamizadeh
Gholamhossein Amirhakimi
Sepideh Atashi
Shiva Nasirabadi
