Idiopathic pulmonary hemosiderosis associated with Kabuki syndrome

Figures & data

Figure 1. (A) The heterozygous KMT2D mutation c.7411C > T (p.Arg2471Ter) was identified in the proband. (B) Chest radiograph showing severe diffuse infiltration of bilateral lungs. (C) Chest computed tomography showing multiple ground glass opacities and consolidation in both lung fields. (D) Chest radiograph after methylprednisolone pulse therapy showing markedly decreased lung infiltration.