open access

Vol 66, No 2 (2015)
Case report
Published online: 2015-05-01
Submitted: 2014-01-19
Accepted: 2014-06-14
Get Citation

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
·
Endokrynologia Polska 2015;66(2):170-174.

open access

Vol 66, No 2 (2015)
Case report
Published online: 2015-05-01
Submitted: 2014-01-19
Accepted: 2014-06-14

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)

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Keywords

Bruck; joint contracture; osteogenesis imperfecta; arthrogryposis; FKBP10 gene novel mutation

About this article
Title

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

Journal

Endokrynologia Polska

Issue

Vol 66, No 2 (2015)

Pages

170-174

Published online

2015-05-01

DOI

10.5603/EP.2015.0024

Bibliographic record

Endokrynologia Polska 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

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