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羊膜带综合征合并无脑儿:一例报告及文献复习

Amniotic Band Syndrome Associated with Exencephaly: A Case Report and Literature Review.

作者信息

da Silva Aldo Jose F

机构信息

Division of Pediatric Neurosurgery, Santa Mônica Maternity School (SMMS), Maceió, Alagoas, Brazil.

出版信息

J Pediatr Neurosci. 2019 Apr-Jun;14(2):94-96. doi: 10.4103/jpn.JPN_130_18.

Abstract

Amniotic band syndrome (ABS) is a rare congenital disease with variable manifestations ranging from simple constriction rings at the extremities to major defects such as exencephaly. Here we report the case of a female baby born full term (39 weeks) from a 35-year-old primiparous mother by cesarean section. In addition to the constriction rings at the extremities (fingers), the newborn presented facial malformations and a cranial anomaly suggestive of exencephaly. Supportive treatment was chosen because of the poor prognosis, and the child died 5 months later. Depending on the anomaly associated with ABS and its complexity, as in our case, genetic studies should be performed whenever possible, and the parents should be informed about the possibility of recurrences and incompatibility with life.

摘要

羊膜带综合征(ABS)是一种罕见的先天性疾病,其表现多样,从四肢简单的缩窄环到诸如无脑儿等严重缺陷。在此,我们报告一例足月(39周)女婴的病例,该女婴由一位35岁初产妇经剖宫产分娩。除了四肢(手指)的缩窄环外,新生儿还出现面部畸形和提示无脑儿的颅骨异常。由于预后不良,选择了支持性治疗,患儿于5个月后死亡。根据与羊膜带综合征相关的异常情况及其复杂性,如我们的病例,应尽可能进行基因研究,并应告知父母复发的可能性以及与生命的不相容性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5b5/6712913/972b7842fa6b/JPN-14-94-g001.jpg

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