期刊
ENDOKRYNOLOGIA POLSKA
卷 66, 期 2, 页码 170-174出版社
VIA MEDICA
DOI: 10.5603/EP.2015.0024
关键词
Bruck; joint contracture; osteogenesis imperfecta; arthrogryposis; FKBP10 gene novel mutation
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.
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