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骶骨发育不全伴神经源性膀胱功能障碍——病例报告及文献综述

Sacral Agenesis with Neurogenic Bladder Dysfunction-A Case Report and Review of the Literature.

作者信息

Sharma Seema, Sharma Vipin, Awasthi Bhanu, Sehgal Manik, Singla Deeksha A

机构信息

Associate Professor, Department of Pediatrics, Dr Rajendra Prasad Govt Medical College and Hospital , HP, India .

Associate Professor, Department of Orthopedics, Dr Rajendra Prasad Govt Medical College and Hospital , HP, India .

出版信息

J Clin Diagn Res. 2015 Jun;9(6):RD08-9. doi: 10.7860/JCDR/2015/13694.6113. Epub 2015 Jun 1.

Abstract

Sacral agenesis (part of the caudal regression syndrome) is a rare and severe sacral developmental abnormality. It is a congenital malformation of unknown aetiology with possible involvement of genetic and teratogenic factors. It is described by various degrees of developmental failure, the most extreme and rare being sirenomelia or mermaid syndrome. The associated malformations comprise anorectal, vertebral, urological, genital, and lower limb anomalies. Approximately 15-20% mothers of these children have insulin dependent diabetes mellitus. The case is being reported for its rarity and educative value because prognosis is good in isolated sacral agenesis.

摘要

骶骨发育不全(尾部退化综合征的一部分)是一种罕见且严重的骶骨发育异常。它是一种病因不明的先天性畸形,可能涉及遗传和致畸因素。它表现为不同程度的发育失败,最极端且罕见的是并腿畸形或美人鱼综合征。相关畸形包括肛门直肠、脊柱、泌尿系统、生殖系统和下肢异常。这些孩子的母亲中约有15 - 20%患有胰岛素依赖型糖尿病。由于孤立性骶骨发育不全的预后良好,现报告此病例以其罕见性和教育价值。

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本文引用的文献

1
Traffic jam in the primitive streak: the role of defective mesoderm migration in birth defects.
Birth Defects Res A Clin Mol Teratol. 2014 Aug;100(8):608-22. doi: 10.1002/bdra.23283. Epub 2014 Aug 13.
3
Involvement of the HLXB9 homeobox gene in Currarino syndrome.
Am J Hum Genet. 2000 Jan;66(1):312-9. doi: 10.1086/302723.
7
Triad of anorectal, sacral, and presacral anomalies.
AJR Am J Roentgenol. 1981 Aug;137(2):395-8. doi: 10.2214/ajr.137.2.395.
10
Hereditary sacral agenesis with presacral mass and anorectal stenosis: the Currarino triad.
Br J Surg. 1991 May;78(5):536-8. doi: 10.1002/bjs.1800780507.

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