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并腿畸形:存活美人鱼病例。

Sirenomelia: case of the surviving mermaid.

作者信息

Murphy J J, Fraser G C, Blair G K

机构信息

Division of Pediatric Surgery, British Columbia Children's Hospital, Vancouver, Canada.

出版信息

J Pediatr Surg. 1992 Oct;27(10):1265-8. doi: 10.1016/0022-3468(92)90270-h.

DOI:10.1016/0022-3468(92)90270-h
PMID:1403499
Abstract

This report describes a neonate with sirenomelia who was recently treated at British Columbia Children's Hospital. Prenatal diagnosis was made at 29 weeks' gestation. Survival was not anticipated. Cesarean-section at term showed a live 2,375-g infant with excellent Apgar scores. Anomalies noted were fused lower extremities, imperforate anus, colon atresia, bilateral fused pelvic kidneys with renal dysplasia, pelvic and sacral dysplasia, and genital abnormalities. Laparotomy and colostomy were performed. All other anomalies are compatible with life and she is neurologically normal. Eventual separation of the lower extremities is planned. This is the second reported case of survival in a patient born with sirenomelia.

摘要

本报告描述了一名患有并腿畸形的新生儿,该患儿近期在不列颠哥伦比亚省儿童医院接受治疗。妊娠29周时做出了产前诊断。预计无法存活。足月剖宫产娩出一名体重2375克的活婴,阿氏评分良好。发现的异常包括下肢融合、肛门闭锁、结肠闭锁、双侧融合性盆腔肾伴肾发育不良、骨盆和骶骨发育不良以及生殖器异常。进行了剖腹手术和结肠造口术。所有其他异常情况均与生命相容,且她神经功能正常。计划最终对下肢进行分离。这是第二例报道的患有并腿畸形的患儿存活病例。

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引用本文的文献

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Sirenomelia (Mermaid Syndrome): A Case Report.美人鱼综合征(并腿畸形):病例报告。
Turk Patoloji Derg. 2020;36(3):256-260. doi: 10.5146/tjpath.2020.01491.
2
Sirenomelia: the mermaid syndrome.并腿畸形:美人鱼综合征。
Pediatr Surg Int. 1996 Oct;11(8):580-1. doi: 10.1007/BF00626073. Epub 2013 Sep 21.
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Birth defects associated with perturbations in preimplantation, gastrulation, and axis extension: from conjoined twinning to caudal dysgenesis.与植入前、原肠胚形成和轴延伸过程中的扰动相关的出生缺陷:从联体双胎到尾部发育不全。
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Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review.美人鱼综合征:国际出生缺陷监测和研究信息交换所大型数据集的流行病学研究及文献复习。
Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):358-73. doi: 10.1002/ajmg.c.30324. Epub 2011 Oct 14.
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The sirenomelia sequence: a case history.人鱼序列征:一例病史
Clin Med Insights Case Rep. 2010;3:41-9. doi: 10.4137/ccrep.s5347. Epub 2010 Aug 13.
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Dis Model Mech. 2011 May;4(3):289-99. doi: 10.1242/dmm.007732. Epub 2011 Apr 18.
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