IMPE Abstracts

Bruck's Syndrome was first described in 1897 by Alfred Bruck, with an autosomal recessive inheritance, resulting from the FKBP10 mutation that courses with conditions of different severity. The prevalence is less than 1/1,000,000, with less than 40 cases described in the literature. This mutation generates a loss in the function of the FKBP65 protein, which generates effects such as a delay in the secretion of type 1 procollagen, and a decrease in the formation of intermo...