患儿男,2d,因“发现头部和肢体异常2d”入院。患儿为第2胎第2产,胎龄39周,顺产出生,出生体重3900g,羊水Ⅰ°混浊,无窒息抢救史,生后Apgar评分1、5、10分钟分别为9、10、10分。否认家族遗传病史。孕母24岁,否认有特殊病史及怀孕期间感染史,第1胎为正常女婴。入院时查体:前额突出 Children male, 2d, due to “found the head and limb abnormalities 2d” admission. Children with a second child of the second production, gestational age 39 weeks, birth, birth weight 3900g, amniotic fluid I ° cloudy, without apnea rescue history, Apgar score 1,5,10 minutes after birth were 9,10,10 points . Denied family history of genetic disease. 24-year-old pregnant mother, denied having a special history and infection during pregnancy, the first child was a normal baby girl. Physical examination at admission: prominent forehead