Tina Leunbach, Stense Farholt, Anne Skakkebæk & Pernille Axél Gregersen
Ugeskr Læger 2021;183:V02210163
We report a boy with congenital hemihyperplasia, umbilical hernia and temporary neonatal hypoglycemia, who was confirmed to have BWS caused by paternal uniparental disomy of chromosome 11p15.5. Additional phenotypic features comprising scoliosis, nephromegaly, focal partial epilepsy and delayed psychomotor development were coherent with the underlying genotype. This case emphasizes the importance of identifying the underlying genetic variant in order to acknowledge and manage the associated clinical complications and specific risk profile.