男婴,生后8天因新生儿肺炎住院。患儿系第一胎,第一产,足月顺产。父28岁,母26岁,均体健,否认近亲婚配。体检:体重3.2kg,头围52cm,身长52cm。头面明显畸形,额高,哭叫时形成深的皱纹;眉毛内侧稀少,眉间宽,水平眼裂,眼距过宽,上睑下垂;鼻缘两侧近似平行,鼻梁与鼻尖一样宽, Baby boy, 8 days after birth due to neonatal pneumonia hospitalization. Children with the first child, the first birth, term full-term. The father of 28 years old, mother of 26 years old, are healthy, denied the marriage of inces. Physical examination: body weight 3.2kg, head circumference 52cm, body length 52cm. Head deformity deformity, the amount of high, crying when the formation of deep wrinkles; eyebrows scarce inside, wide eyebrows, level cracked eyes, eyes wide, ptosis; nasolabial parallel to both sides of the nose as wide as the tip of the nose,