IMPE Abstracts

Congenital hypopituitarism occurs in approximately 1/4000 births. Affected children have either isolated growth hormone deficiency or multiple pituitary hormone deficiencies. 65% of these individuals have syndromic features, such as abnormalities in craniofacial, gonadal, eye, and/or central nervous system development. 57% of the cases are dominant with incomplete penetrance, and the presentation is highly variable, even among related individuals. 67 different genes have been ...

Introduction: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome caused by genetic or epigenetic defects within the chromosome 11p15.5 region. BWS growth pattern with accelerated growth during infancy is widely known, and whenever there is a change in the expected growth, further investigation is warranted.Objective: To describe a patient with BWS and growth failure.Case report:</s...