Integrated approach to care of children with genetic disorders on the example of a child with Apert syndrome (clinical case)

The article presents a clinical case of Apert syndrome in a 2-year-old child. Apert syndrome is an autosomal dominant hereditary craniosynostosis that develops due to the pathogenic variant of the FGFR2 gene, which leads to a deficiency of intracellular signals that regulate embryogenesis, causing premature gastrulation, implantation abnormalities, violation of epithelial-mesenchymal interactions, which determines the severity of the patient’s condition. The article demonstrates an integrated approach to the management and observation of such a patient with the involvement of specialists of various profiles.