The Pattern of Silver-Russell Syndrome: Own Observation

    January 2024 in “ Wiadomości Lekarskie ”
    N.M. Gromnatska, M. Iskiv
    TLDR A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
    The study focuses on a 5-year-old child diagnosed with Silver-Russell syndrome (SRS), characterized by growth retardation and distinct phenotypic features. The diagnosis was based on clinical examination, genetic testing, and exclusion of other conditions. Genetic analysis revealed a variant of SRS with uniparental dysfunction on chromosome 20. The child also has congenital lactose intolerance. Treatment includes somatotropic hormone therapy. The study emphasizes the need for a multidisciplinary approach involving various specialists for effective management of the child's condition.
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