21三体患者胃肠道畸形的发病率较高，但合并肛门闭锁，巨结肠症及Down氏综合征文献中尚未见报道，本文报道1例。病例早产女婴，出生当日查体发现患儿肛门闭锁但无阴道瘘或前庭瘘，亦无明显的心脏畸形，即行乙状结肠近端造口术。术后造口功能迅速恢复，患儿体重增加，不久出院。 21 trisomy patients with a higher incidence of gastrointestinal malformations, but the merger of the anus atresia, Hirschsprung’s disease and Down’s syndrome has not been reported in the literature, this article reported 1 case. Case of premature baby girl, the day of birth examination found that children with anal atresia but no vaginal fistula or vestibular fistula, nor obvious cardiac malformations, that line sigmoid colon proximal ostomy. Postoperative ostomy rapid recovery, weight gain in children, soon discharged.