ESPE Abstracts

Objectives: Angelman syndrome (AS) is a rare, genetic, neurodevelopmental disorder characterized by developmental delay with severe impairments in speech, motor and coordination dysfunction and unique behaviors, accompanied with distinct facial features and high prevalence of epilepsy and sleep problems. Despite few reports regarding short stature among AS patients, this feature has not been extensively studied and is not included in the clinical criteria defi...

Background: Mitochondrial disorders resulting from single large-scale mitochondrial DNA (mtDNA) deletions (SLSMDs) are a group of non-inherited congenital diseases that lead to three clinically overlapping syndromes: Pearson syndrome (PS), Kearns-Sayre syndrome (KSS), and chronic progressive external ophthalmoplegia (PEO). Although many reports have addressed endocrine abnormalities in patients with SLSMD, there hasn't been an in-depth study on these abno...