Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 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.
Hossein
H
Moravej
Hamdollah
H
Karamifar
Zohreh
Z
Karamizadeh
Gholamhossein
G
Amirhakimi
Sepideh
S
Atashi
Haematology Research Centre, Shiraz University of Medical Sciences, Shiraz, Iran. shiva.nasirabadi@gmail.com.
Shiva
S
Nasirabadi
D001176:Arthrogryposis / Q000175:diagnosis / Q000378:metabolism*; D002675:Child, Preschool; D005260:Female; D006720:Homozygote; D006801:Humans; D007492:Iran; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000175:diagnosis / Q000378:metabolism*; D022021:Tacrolimus Binding Proteins / Q000235:genetics*
D022021:Tacrolimus Binding Proteins; C110054:FKBP10 protein, human