无脑存活:无脑畸形、羊水缺乏症、腹水缺乏症、无肢症和肾发育不全

Q4 Medicine

Rwanda Medical Journal Pub Date : 2023-03-31 DOI:10.4314/rmj.v80i1.8

M. Adam Afodun, J. Gashegu, K. Khadijah Quadri, A. Mustapha Masud, A. Imam, M. Fernendez Edgar, gg, S. Olatayo Okeniran

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引用次数: 0

摘要

一位怀孕的中年妇女在超声检查中显示了一个在25周孕龄时存活的无脑胎儿。发现双侧大脑半球缺失，颅穹窿，羊水无，腹水，鼻根瘤。我们讨论在一个非近亲(黑人)夫妇的25周产前扫描的证据为基础的双amelia。除了四肢无畸形外，胎儿还有腹水和其他畸形特征。已知四足病是由WNTB基因突变引起的;近亲通婚。诊断为腹水，amelia，无脑/无脑症和羊水无，预后记录在本报告中。

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Alive without a brain: Acrania/anencephaly, anhydraminios, abdominal-ascites, amelia and agenesis of the kidneys

A gravid middle-aged woman viewed on ultrasound demonstrated a viable anencephalic fetus at 25 weeks gestational age. The absence of the bilateral cerebral hemisphere, cranial vault, anhydramnios, abdominal ascites, and phaco-rhizomelia was discovered. We discuss evidence-based quadra –amelia in a non-consanguineous (negroid) couple of a 25-week prenatal scan. Apart from amelia on all four limbs, the fetus had abdominal ascites with other dysmorphic features. Tetramelia is known to be caused by mutation of the WNTB gene; in close relative inter-marriages. A diagnosis of ascites, amelia, anencephaly/acrania, and anhydramnios was made, and the prognosis was documented in this report.

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来源期刊

Rwanda Medical Journal Medicine-Medicine (all)

CiteScore

0.20

自引率

0.00%

发文量

审稿时长

7 weeks

期刊介绍： The Rwanda Medical Journal (RMJ), is a Not-For-Profit scientific, medical, journal that is published entirely online in open-access electronic format. The RMJ is an interdisciplinary research journal for publication of original work in all the major health disciplines. Through a rigorous process of evaluation and peer review, The RMJ strives to publish original works of high quality for a diverse audience of healthcare professionals. The Journal seeks to deepen knowledge and advance scientific discovery to improve the quality of care of patients in Rwanda and internationally.