Rare bone disease in a newborn child

Congenital bone, joint, and muscle defects may be a manifestation of genetic syndromes, in which congenital defects extend not only to bones, joints, and muscles, but also to other organs and systems. Brooke syndrome is an autosomal recessive disorder with multiple joint contractures and bone fragility. The disease is associated with pathogenic mutations in the FKBP10 and PLOD2 genes, mapped to chromosomes 17 and 3, respectively. The PLOD2 and FKBP10 genes act during the maturation of type 1 procollagen and contribute to the molecular stability of bone tissue. Mutations in the PLOD2 and FKBP10 genes lead to abnormal bone matrix assembly and abnormal post-translational modifications of type 1 collagen, which determines the pathogenesis of brittle bone disease. The article presents a case of a rare disease with increased bone fragility, multiple congenital contractures and congenital heart defect, genetically identified as Brooke syndrome type 1.