患儿男,因“生后呻吟、发绀、易惊2 h”入院。患儿系第2胎第2产,胎龄37周,出生史不详。查体:体温不升,P 125次/min,R 53次/min,体重2200 g,身长47 cm,精神萎靡,面色及口唇发绀,呼吸浅弱欠规则,头围33 cm,颅顶平坦呈短头畸形,囟门和颅缝增宽,前囟饱满,顶骨部无骨感,双肺可闻及少量湿啰音,心腹未见异常,四肢肌张力低,原始反射未引出。家族史:父母系近亲,家族中连续四代均为 Children male, because “groan after birth, cyanosis, easy to shock 2 h ” admission. The second line of children with the second child, gestational age 37 weeks, birth history unknown. Physical examination: body temperature does not rise, P 125 beats / min, R 53 beats / min, body weight 2200 g, body length 47 cm, apathetic, complexion and lips cyanosis, lack of breathing rules, head circumference 33 cm, Short head deformity, fontanelle and cranial suture widened, full of anterior fontanelle, apical boneless, lungs can be heard and a small amount of wet rales, no abnormal heart, limb muscle tension is low, the original reflection did not lead. Family history: parents are close relatives, the family for four generations in a row