患儿男，２．５岁。因口腔及咽峡部粘膜布满白色微凸的小点和斑片，伴拒食、发热５天就诊。查体：贫血貌，愚笨面容，眼距宽，眼裂小，眼外角上斜，鼻梁低平，腭弓高。四肢肌张力低下，通贯手，手掌叉点移向掌心，拇指球区可见胫侧弓形纹。皮肤、粘膜无黄染，面部布满散在... The boy is 2.5 years old. Due to the mucous membranes of the mouth and pharyngeal isthmus covered with white, slightly convex spots and patches, there was a five-day visit with fever and food. Physical examination: anaemia appearance, stupid face, wide eye distance, small eye tears, oblique angles outside the eyes, low bridge of the nose, high zygomatic arch. The limbs had low muscle tone, a consistent hand movement, a palm shift to the palm, and a temporal arch pattern in the thumb sphere. The skin and mucous membranes are yellow-stained, and the face is covered with...