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先天性短肠综合征伴左手缺如:1例报告。

Congenital short bowel syndrome with left acheiria: report of one case.

作者信息

Lin J H, Chang M H, Teng R J, Yau K I, Wang T R

机构信息

Department of Pediatrics, National Taiwan University Hospital, Taipei, R.O.C.

出版信息

Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1997 Sep-Oct;38(5):393-5.

PMID:9401186
Abstract

A case of congenital short bowel syndrome with left acheiria, hemivertebra and dextrocardia is described. Dilatation of the fetal bowel was observed at the 24th week of gestation during a routine ultrasonic scan of a healthy 23-year-old primigravida from a non-consanguineous marriage. Amniocentesis and chorionic villus sampling were denied. The baby was delivered at 38 weeks of gestational age. After delivery, multiple anomalies were noted: left acheiria, congenital short bowel syndrome (15 cm in length of the ileum), pseudo-obstruction of intestine, dextrocardia, and hemivertebrae. We suspected these abnormalities might be due to a vascular accident or failure of lateralization during the early gestational period. To our knowledge, these combinations have not been reported previously in English literature.

摘要

本文描述了一例患有先天性短肠综合征并伴有左侧无手畸形、半椎体和右位心的病例。在对一名来自非近亲婚姻的健康23岁初产妇进行常规超声扫描时,于妊娠第24周观察到胎儿肠道扩张。孕妇拒绝进行羊水穿刺和绒毛取样。婴儿在孕38周时分娩。出生后,发现了多种异常情况:左侧无手畸形、先天性短肠综合征(回肠长度为15厘米)、肠道假性梗阻、右位心和半椎体。我们怀疑这些异常可能是由于妊娠早期的血管意外或侧化失败所致。据我们所知,这些异常组合在以前的英文文献中尚未有报道。

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引用本文的文献

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Genetics of non-isolated hemivertebra: A systematic review of fetal, neonatal, and infant cases.非孤立性半椎体的遗传学:胎儿、新生儿和婴儿病例的系统评价。
Clin Genet. 2022 Oct;102(4):262-287. doi: 10.1111/cge.14188. Epub 2022 Jul 21.