hrp0098p2-177 | Growth and Syndromes | ESPE2024
Muz Nataliia
, Törnblom Hans
, Saalman Robert
, Dahlgren Jovanna
Objective: Silver-Russell Syndrome (SRS) is a rare disorder characterized by growth restriction and distinctive phenotypic features. The underlying mechanisms include loss of methylation on chromosome 11p15 and maternal uniparental disomy of chromosome 7. While feeding difficulties and gastrointestinal (GI) symptoms are prevalent during childhood, their manifestation and severity in adulthood remain unclear. This study aim ed to evaluate the presence and sever...