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一例罕见的胎儿神经管缺陷;隐性脊柱裂头畸形。

A Rare Case of Fetal Neural Tube Defect; Iniencephaly Clausus.

作者信息

Arega Bantayehu Nega, Endalew Sintayehu Debas, Hailu Daniel Miskir

机构信息

Department of Obstetrics and Gynecology, College of Medicine and Health Sciences, Bahir Dar University, Bahir Dar, Ethiopia.

出版信息

AJP Rep. 2024 Dec 26;14(4):e281-e283. doi: 10.1055/a-2496-2417. eCollection 2024 Jul.

Abstract

Iniencephaly is an extremely rare type of neural tube defect characterized by the fusion of the cervical and cervicothoracic vertebrae. This condition results in acute retroflexion of the head, a short neck, significant lordosis of the cervical spine, and an upturned facial appearance. This condition typically results in poor fetal outcomes, with many cases ending in stillbirth or neonatal death.  Here, we present a case of iniencephaly diagnosed during intrapartum ultrasound in a 34-year-old gravida 5 woman referred from a health center to a primary hospital due to preterm premature rupture of membrane and labor. The fetus died intrapartum a few minutes before delivery.  Iniencephaly remains a rare but critical condition that poses significant challenges for prenatal diagnosis and management. This case underscores the importance of early and accurate imaging in the detection of such severe anomalies, which can provide essential information for clinical decision-making and counseling.

摘要

无脑儿后位畸形是一种极其罕见的神经管缺陷类型,其特征为颈椎和颈胸椎融合。这种情况会导致头部急性后屈、颈部短、颈椎显著前凸以及面部朝上的外观。这种情况通常会导致胎儿预后不良,许多病例以死产或新生儿死亡告终。在此,我们报告一例在产时超声检查中诊断出的无脑儿后位畸形病例,该病例为一名34岁、孕5产的女性,因胎膜早破早产从健康中心转诊至一家一级医院。胎儿在分娩前几分钟死于产时。无脑儿后位畸形仍然是一种罕见但严重的病症,给产前诊断和管理带来重大挑战。该病例强调了早期准确成像在检测此类严重异常中的重要性,可为临床决策和咨询提供重要信息。

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