患儿男,17天,因“拒奶、反应差、发绀4天”入院。患儿系第6胎第2产,胎龄40周臀位剖宫产,出生体重2700 g,无窒息,羊水、胎盘、脐带无异常。父母均40岁,体健,非近亲婚配。母亲人工流产4次,有一姐,15岁,体健。家族中无特殊遗传病史。查体:T 38.4℃,HR 158次/min,RR 50次/min,BP72/41 mm Hg,体重2640 g,反应差,眼距稍宽,鼻梁低平,全身皮肤重度黄染,可见散在出血点,头颅无 Children male, 17 days, due to “refuse to milk, poor response, cyanosis 4 days ” admission. Children in the second 6th births, 40 weeks gestational age breech cesarean section, birth weight 2700 g, no asphyxia, amniotic fluid, placenta, umbilical cord without exception. Both parents are 40 years old, healthy, non-relatives of marriage. Mother abortion 4 times, a sister, 15 years old, physical health. No specific family history of genetic disease. Examination: T 38.4 ℃, HR 158 times / min, RR 50 times / min, BP72 / 41 mm Hg, weight 2640 g, poor response, slightly wider eyes, low nose bridge, Point, no head