1　病例报告 患儿女,6岁,生后少哭少动,6个月认母,会坐,1岁会站,2岁发单音,无耳聋。特殊面容,双外眼角向下,眼球突出,右眼睑下垂。耳廓大,耳垂大,耳位低。鼻隆突,鼻根宽,耳翼基底部窄。发黑密,前发际低。高腭弓,双悬雍垂无颈蹼。心前区膨隆,胸骨左缘第4、5肋间可触及细震颤,闻及4级粗糙收缩期杂音,肝脾未触及。脊柱向左侧突,四肢肌张 1 case report Children, 6 years old, less crying less after birth, 6 months admit mother, will sit, 1-year-old station, 2-year-old single tone, no deafness. Special face, double outer corner down, eyeballs prominent, right eyelid ptosis. Large auricle, ear lobes, ear low. Nasal protrusion, nasal root width, ear wing base narrow. Dark hair, before the hair low. High palatal arch, double uvula without cervical webbed. Pre-bulging, sternal left margin 4,5 intercostal can reach fine tremor, smell and rough 4 systolic murmur, liver and spleen not touched. Spine to the left suddenly, limbs Zhang