Akademik Veri Yönetim Sistemi
Pediatrics Eastern Europe, cilt.14, sa.1, ss.160-168, 2026 (Scopus)
A rare clinical case of Williams – Beuren syndrome (WBS) and caudal regression syndrome (CRS) combination in a 12-year-old girl is presented, highlighting the importance of multidisciplinary and molecular genetic counseling (MGC) in diagnosis. Clinical, neurological, and instrumental examinations were performed, including magnetic resonance imaging (MRI) of the brain and lumbosacral spine, echocardiography, renal ultrasound (USG), as well as molecular genetic testing using fluorescence in situ hybridization (FISH) analysis. A combination of characteristic craniofacial dysmorphism typical of Williams – Beuren syndrome and complete agenesis of the sacrococcygeal spine characteristic of caudal regression syndrome was identified. A 7q11.23 microdeletion was genetically confirmed. Mild intellectual disability, spastic diplegia, congenital heart defect, and urinary system anomalies were diagnosed. The presented case demonstrates the phenotypic overlap of two rare syndromes of different etiologies and emphasizes the potential role of disturbances in early embryonic development. A comprehensive approach involving specialists from various fields and the use of modern genetic diagnostic methods is essential for establishing an accurate diagnosis in complicated clinical cases.