A 4-year-old girl with Kabuki syndrome was evaluated and diagnosed with an atrial septal defect on the basis of an abnormal cardiac physical examination. A chest radiograph was performed, which demonstrated multiple skeletal abnormalities and mild prominence of the pulmonary vasculature consistent with...
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt Article 22 November 2021 Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population Article Open access 27 April 2023 Automated syn...