体柄畸形:尼日利亚新生儿罕见畸形的临床和组织病理学发现。

K I Egbuchulem, O O Ogundoyin, D I Olulana, A A Salami, O S Adamo, O T Ojediran
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引用次数: 0

摘要

简介体柄畸形(BSA)是一种罕见的严重先天性畸形,其确切的病理生理学至今仍不清楚。体柄畸形的可能原因包括羊膜早期破裂造成的直接机械压力和羊膜带、早期胚胎的血管破坏或胚盘异常:我们报告了一例超声延迟诊断 BSA 的病例,该病例在分娩后经组织病理学检查得到确诊。胎儿的声像图特征包括前腹壁缺损(脐窝),肝脏突入羊膜腔。脐动脉的口径、流量、速度和频谱波形均正常:结论:体柄畸形被认为是一种致命的畸形,因此在产前将其与其他前腹壁缺损区分开来非常重要,这可以指导处理方案。
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BODY STALK ANOMALY: CLINICAL AND HISTOPATHOLOGIC FINDINGS OF THIS RARE ANOMALY IN A NIGERIAN NEWBORN.

Introduction: Body stalk anomaly (BSA) is a rare and severe congenital malformation in which the exact pathophysiology is still unknown. The possible causes of body stalk anomaly include early amnion rupture with direct mechanical pressure and amniotic bands, vascular disruption of the early embryo, or an abnormality in the germinal disk.

Case presentation: We report a case of sonologically delayed diagnosis of BSA which was confirmed post-delivery following histopathological examination and we reviewed relevant literature regarding this phenomenon. Sonographic features of the foetus included a wide anterior abdominal wall defect (omphalocele) with protrusion of the liver into the amniotic cavity. The umbilical arteries show normal calibre, flow, velocimetry, and spectral waveform.

Conclusion: Body stalk anomaly is accepted as a fatal anomaly, so it is important to differentiate it from other anterior abdominal wall defects prenatally and this could guide the management options.

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