Vol 66, No 2 (2015)
Case report
Published online: 2015-05-01

open access

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Bruck syndrome — a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation

Hossein Moravej, Hamdollah Karamifar, Zohreh Karamizadeh, Gholamhossein Amirhakimi, Sepideh Atashi, Shiva Nasirabadi
DOI: 10.5603/EP.2015.0024
Pubmed: 25931047
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)