ESPE Abstracts

Background: Diabetes mellitus is a heterogeneous disorder with multiple aetiologies. Monogenic diabetes accounts for an estimated 2–5% of cases and is often associated with impaired pancreas development and β-cell dysfunction. Heterozygous mutations in the transcription factor, HNF1B, result in multi-system disease including diabetes due to β-cell dysfunction, hepatic insulin resistance and pancreatic hypoplasia. However, the mechanisms that underlie development...

Introduction: Rubenstein-Taybi Syndrome (RSTS)is a rare multiple congenital anomaly syndrome with a prevalence of 1:100,000 to 1:125,000. It is classically characterized by postnatal growth deficiency, microcephaly, learning difficulties, increased risk of tumour formation, broad thumbs and halluces and dysmorphic facial features including highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose, high arched palate and characteri...