2026-10-12T13:33:18Z https://api.figshare.com/v2/oai

oai:figshare.com:article/33971485 2026-09-23T06:58:30Z category_7 portal_147 item_type_3 month_year_09_2026

Supplemental Material for: Phenotypic Heterogeneity in Schaaf-Yang Syndrome: Early Musculoskeletal Features and Growth Hormone Deficiency with Partial Empty Sella: A Case Report figshare admin karger (2628495) Gülümay Vural Topaktaş (25094963) Gülçin Arslan (25094964) Tayfun Cinleti (24597667) Esra Usluer (25094968) Bumin Nuri Dündar (25094970) Medicine Medicine <p dir="ltr">Introduction: Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder caused by truncating variants in the MAGEL2 gene and is characterized by a broad and evolving clinical spectrum. Although neurodevelopmental and musculoskeletal features are well described, endocrine involvement remains less clearly defined.</p><p dir="ltr">Case Presentation: We report two patients with genetically confirmed SYS who demonstrated distinct clinical presentations. The first case presented in infancy with hypotonia, developmental delay, and camptodactyly, consistent with the classical phenotype. In contrast, the second case presented in later childhood with severe growth retardation and was diagnosed with growth hormone deficiency. Pituitary magnetic resonance imaging revealed partial empty sella and pituitary hypoplasia. Growth hormone therapy resulted in a marked improvement in growth velocity and height SDS.</p><p dir="ltr">Conclusion: These cases highlight the phenotypic variability of SYS and emphasize that endocrine manifestations, including growth hormone deficiency, may become clinically prominent beyond early childhood. The coexistence of growth hormone deficiency and partial empty sella in Patient 2 represents an uncommon finding that warrants further investigation.</p> 2026-09-23T06:58:30Z Dataset Dataset 10.6084/m9.figshare.33971485.v1 https://figshare.com/articles/dataset/Supplemental_Material_for_Phenotypic_Heterogeneity_in_Schaaf-Yang_Syndrome_Early_Musculoskeletal_Features_and_Growth_Hormone_Deficiency_with_Partial_Empty_Sella_A_Case_Report/33971485 CC BY 4.0