Bruck syndrome – description of the first Polish infant with FKBP10 gene mutation

Abstract

Background: Bruck syndrome is a very rare genetic disorder that combines features of congenital bone fragility and arthrogryposis. It is characterised by osteoporosis, increased susceptibility to bone fractures, progressive joint contractures, and short stature, among other features. Bruck syndrome is inherited in an autosomal recessive manner, and the mutation affects mainly the gene located on chromosome 17p12 (FKBP10 gene). Case presentation: The authors present the first description of an 18-month-old Polish boy diagnosed with Bruck syndrome. The management includes making a correct diagnosis based on the clinical picture, phenotypic features, and additional laboratory and imaging examinations. In the discussion, the authors touched upon the available treatment modalities and the differentiation of Bruck syndrome with similar diseases. Conclusions: Understanding the clinical spectrum of Bruck syndrome and providing appropriate medical interventions in the early stages of the disease enables the implementation of appropriate treatment and rehabilitation.