ESPE Abstracts

Background: Poland syndrome (PS) is characterized by unilateral absence or hypoplasia of the pectoralis muscle, most frequently involving the sternocostal portion of the pectoralis major muscle, and a variable degree of ipsilateral hand and digit anomalies, including symbrachydactyly. Congenital Hyperinsulinism (CHI) is the result of unregulated insulin secretion from the pancreatic β-cells leading to severe hypoglycaemia. We report a baby with Poland’s syndrome and ...

Background: Phaeochromocytoma is a rare neuroendocrine tumour originating from chromaffin cells in the adrenal medulla and less commonly from extra-adrenal paraganglia. Phaeochromocytoma occur in the context of a genetic syndrome in approximately 50% of adults and 80% of children. Genetic testing of index cases enables testing of first-degree relatives, identification of children who inherit the gene change and surveillance, early diagnosis and treatment of as...