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Association of Hirschsprung's disease and imperforate anus in a patient with "cat-eye" syndrome. A report of one case and review of the literature.

作者信息

Mahboubi S, Templeton J M

出版信息

Pediatr Radiol. 1984;14(6):441-2. doi: 10.1007/BF02343439.

DOI:10.1007/BF02343439
PMID:6504608
Abstract

Association of imperforate anus and Hirschsprung's disease is rare, the incidence of both events occurring together would be one child out of every 25 million live births. A case of "cat-eye" syndrome with association of high imperforate anus and long segment Hirschsprung's disease is presented.

摘要

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本文引用的文献

1
Anal atresia combined with aganlionic megacolon.
Acta Chir Scand. 1960 Jan 30;118:252-6.
2
Diagnosis and treatment of aganglionosis of the myenteric plexus.肠肌丛神经节缺失症的诊断与治疗
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3
Manometry and barium enema in the diagnosis of Hirschsprung disease.测压法和钡灌肠在先天性巨结肠症诊断中的应用
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先天性巨结肠症与肛门直肠畸形并存:一项系统综述
Pediatr Surg Int. 2020 Jan;36(1):21-24. doi: 10.1007/s00383-019-04580-4. Epub 2019 Sep 24.
4
Cat eye syndrome, anorectal malformation, and Hirschsprung's disease.猫眼综合征、肛门直肠畸形和先天性巨结肠病。
J Indian Assoc Pediatr Surg. 2014 Apr;19(2):119-20. doi: 10.4103/0971-9261.129613.
5
Association of Hirschsprung's disease and anorectal malformation: a systematic review.先天性巨结肠症与肛门直肠畸形的关联:一项系统综述。
Pediatr Surg Int. 2013 Sep;29(9):913-7. doi: 10.1007/s00383-013-3352-2.
6
Coloboma and anorectal malformations: a rare association with important clinical implications.脉络膜缺损与肛门直肠畸形:一种罕见的关联,具有重要的临床意义。
Pediatr Surg Int. 2013 Sep;29(9):905-12. doi: 10.1007/s00383-013-3356-y.
7
Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.与先天性巨结肠相关的染色体及相关孟德尔综合征。
Pediatr Surg Int. 2012 Nov;28(11):1045-58. doi: 10.1007/s00383-012-3175-6. Epub 2012 Sep 23.
8
Genomewide scan for anal atresia in swine identifies linkage and association with a chromosome region on Sus scrofa chromosome 1.猪肛门闭锁的全基因组扫描确定了与猪1号染色体上一个染色体区域的连锁和关联。
Genetics. 2005 Nov;171(3):1207-17. doi: 10.1534/genetics.104.032805. Epub 2005 Jul 14.
9
A Hirschsprung disease locus at 22q11?22q11处存在先天性巨结肠病基因座?
J Med Genet. 1999 Mar;36(3):221-4.
10
A genetic study of Hirschsprung disease.先天性巨结肠症的遗传学研究。
Am J Hum Genet. 1990 Mar;46(3):568-80.
4
Imperforate anus: a survey from the members of the Surgical Secton of the American Academy of Pediatrics.
J Pediatr Surg. 1971 Aug;6(4):484-7. doi: 10.1016/s0022-3468(71)80013-1.
5
The frequency of aganglionosis associated with imperforate anus.与肛门闭锁相关的无神经节细胞症的发生率。
Surgery. 1965 Nov;58(5):877-80.