ESPE Abstracts

Introduction: Brachydactyly mental retardation syndrome (BDMR, #MIM600430) is a rare genetic disorder caused by deletions in 2q37 region, characterised by intellectual disability, facial features, and skeletal abnormalities. This case delineates the clinical progression and growth hormone (GH) therapy response of a patient with a unique phenotype resulting from an unbalanced derivative of a paternal balanced translocation, leading to a 2q37 deletion and 14q32 ...

Background: Cardiovascular complications are the leading cause of mortality and morbidity in patients with type 1 diabetes (T1D), and early assessment is crucial. Our study aimed to determine the impact of diabetes on vascular health by monitoring 24-hour ambulatory blood pressure (ABPM) and measuring arterial stiffness (AS) in children with T1D.Methods: Seventy-four consecutive children with T1D and 68 age and sex-match...