Currarino三联征（肛门直肠畸形、骶骨骨质异常和骶前肿块）伴13q和20p染色体部分三体性。 - Suppr

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超能文献

Currarino triad (anorectal malformation, sacral bony abnormality and presacral mass) with partial trisomy of chromosomes 13q and 20p.

作者信息

Nagai T, Katoh R, Hasegawa T, Ohashi H, Fukushima Y

出版信息

Clin Genet. 1994 May;45(5):272-3. doi: 10.1111/j.1399-0004.1994.tb04156.x.

DOI:10.1111/j.1399-0004.1994.tb04156.x

PMID:8076416

Abstract

摘要

相似文献

Currarino triad (anorectal malformation, sacral bony abnormality and presacral mass) with partial trisomy of chromosomes 13q and 20p.Currarino三联征（肛门直肠畸形、骶骨骨质异常和骶前肿块）伴13q和20p染色体部分三体性。

Clin Genet. 1994 May;45(5):272-3. doi: 10.1111/j.1399-0004.1994.tb04156.x.

The Currarino triad: complex of anorectal malformation, sacral bony abnormality, and presacral mass.

Pediatr Radiol. 1984;14(4):220-5. doi: 10.1007/BF01042245.

Currarino triad: anorectal malformation, sacral bony abnormality, and presacral mass--a review of 11 cases.库里亚里诺三联征：肛门直肠畸形、骶骨骨质异常和骶前肿块——11例病例回顾

J Pediatr Surg. 1997 Jan;32(1):58-61. doi: 10.1016/s0022-3468(97)90094-4.

Complete familial Currarino triad in association with Hirschsprung's disease: magnetic resonance imaging features and the spectrum of anorectal malformations.

Acta Radiol. 2006 May;47(4):422-6. doi: 10.1080/02841850600598327.

Currarino triad: surgical management and follow-up results of four [correction of three] cases.库拉里诺三联征：4例[应为3例]患者的手术治疗及随访结果

Pediatr Neurosurg. 2010 Aug;46(2):110-9. doi: 10.1159/000319007. Epub 2010 Jul 20.

[The Currarino triad. An autosomal-dominant inherited complex of anorectal malformation, sacrococcygeal defect and presacral tumor. Observation of 9 further cases].[库拉里诺三联征。一种常染色体显性遗传的肛门直肠畸形、骶尾部缺损和骶前肿瘤的复杂综合征。另外9例病例观察]

Rofo. 1985 Jul;143(1):83-9. doi: 10.1055/s-2008-1052764.

Recurrent meningitis associated with complete Currarino triad in an adult--case report.

Neurol Med Chir (Tokyo). 2003 Oct;43(10):505-8. doi: 10.2176/nmc.43.505.

The Currarino syndrome--hereditary transmitted syndrome of anorectal, sacral and presacral anomalies. Case report and review of the literature.库拉里诺综合征——一种遗传性的肛门直肠、骶骨和骶前异常综合征。病例报告及文献综述。

Eur J Pediatr Surg. 1996 Apr;6(2):114-9. doi: 10.1055/s-2008-1066487.

Complete familial Currarino triad. Report of three cases in one family.完全性家族性库拉里诺三联征。一个家族中的三例报告。

J Neurosurg. 2001 Jan;94(1 Suppl):158-61.

Currarino Syndrome and the Effect of a Large Anterior Sacral Meningocele on Distal Colostogram in an Anorectal Malformation.库拉里诺综合征及巨大骶前脊膜膨出对肛门直肠畸形患者远端结肠造影的影响。

J Radiol Case Rep. 2016 Jun 30;10(6):16-21. doi: 10.3941/jrcr.v10i6.2068. eCollection 2016 Jun.

引用本文的文献

Currarino syndrome: a comprehensive genetic review of a rare congenital disorder.卡兰诺综合征：一种罕见先天性疾病的全面遗传学综述。

Orphanet J Rare Dis. 2021 Apr 9;16(1):167. doi: 10.1186/s13023-021-01799-0.

Associations of anorectal malformations and related syndromes.肛门直肠畸形及相关综合征的关联

Pediatr Surg Int. 2013 Jul;29(7):665-76. doi: 10.1007/s00383-013-3306-8. Epub 2013 Apr 9.

Trisomy 13 is associated with anorectal malformations.13三体综合征与肛门直肠畸形有关。

Arch Dis Child. 2007 Feb;92(2):185. doi: 10.1136/adc.2006.100883.

Autosomal dominant sacral agenesis: Currarino syndrome.常染色体显性骶骨发育不全：库拉里诺综合征。

J Med Genet. 2000 Aug;37(8):561-6. doi: 10.1136/jmg.37.8.561.

A genetic study of the human T gene and its exclusion as a major candidate gene for sacral agenesis with anorectal atresia.一项关于人类T基因的遗传学研究及其作为骶骨发育不全合并肛门直肠闭锁主要候选基因的排除。

J Med Genet. 1999 Mar;36(3):208-13.

Currarino triad with a terminal deletion 7q35-->qter.伴有7号染色体长臂末端缺失（7q35→qter）的库拉里诺三联征。

J Med Genet. 1996 Oct;33(10):877-8. doi: 10.1136/jmg.33.10.877.

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