Tatton-Brown-Rahman syndrome (TBRS) is a relatively new congenital anomaly manifesting overgrowth and broad spectrum of intellectual disability. It caused by pathogenic variants in the DNA methyltransferase 3 alpha (<i>DNMT3A</i>) gene, mainly <i>de novo</i> inheritance. Overgrowth, mild-to-severe disability, other clinical features TBRS may affect quality life patients ...

INTRODUCTION: While Beckwith-Wiedemann syndrome is among rare genomic imprinting disorders, its diagnosis still presents challenges in clinical settings. Therefore, the aim of this work to present different phenotypic features syndrome. CASE PRESENTATION: We reviewed two-month-old patient referred genetic unit at Rwanda military hospital, Kigali, Rwanda. Physical examinations indicated severe l...