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

Year: 2025, volume 21 Issue: №3 Pages: 301-304
Heading: Pediatrics Article type:
Authors: Glushakov I.A., Gumenyuk O.I., Tyapkina D.A., Gadzhikerimov G.E., Chernenkov Yu.V.
Organization: Saratov State Medical University, Saint Petersburg State Pediatric Medical University , Pirogov Russian National Research Medical University, Moscow, Russia , Immanuel Kant Baltic Federal University, Kaliningrad, Russia
Summary:

The article presents a clinical case of Apert syndrome in a 2-year-old child. Apert syndrome is an auto-somal 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.

Keywords: reproductive status, phenotypic features, fibroblast growth factor 2, craniosynostosis, Apert syndrome

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All articles of the authors: Tyapkina D.A. , Gumenyuk O.I., Glushakov I.A., Gadzhikerimov G.E., Chernenkov Yu.V.

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