Kranioraşizis vakalarının değerlendirilmesi.

Erdal Şeker, Mustafa Koçar, Coskun Umi̇t, Hasan Süt, Koray Görkem Saçinti, Gülşah AYNAOĞLU YILDIZ, Esra Özkavukcu, Acar Koç
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Abstract

Objective: Craniorachischisis is a rare and severe variant of neural tube defects (NTDs). It occurs in 0.51 of every 10,000 pregnancies. There is no reported etiology for this fetal abnormality. It frequently coexists with other anomalies and is believed to result from a genetic defect. To our knowledge, this report will be the first reported from a single institution in the literature on craniorachischisis. Material and methods: We present six cases diagnosed with craniorachisis in our clinic in the last 13 years, whose definitive diagnosis was clarified by necroscopy. Results: Craniorachisis is still a vital anomaly because it is a severe anomaly itself and the rate of accompanying other abnormalities is high. Fully elucidating the cause can also be a guide for other. Conclusion: Craniorachischisis can be diagnosed in the first trimester. The vertebral column should especially be examined in patients diagnosed with exencephaly. The heart, extremities, and thoracic-abdomen should be carefully examined when craniorachischisis is diagnosed. The rate of other anomalies accompanying is high. In future research, if the cause of craniorachischisis is understood, it will provide an understanding of the cause of other accompanying this anomaly.
颅疝病例评估。
目的:颅疝是神经管畸形(NTDs)中一种罕见的严重变异型。每 10,000 例妊娠中就有 0.51 例发生。目前还没有关于这种胎儿畸形病因的报道。它经常与其他畸形并存,被认为是遗传缺陷所致。据我们所知,本报告将是文献中第一份来自单个机构的颅骨畸形报告。 材料和方法:我们介绍了过去 13 年中在本诊所确诊的六例颅神经畸形病例,通过尸体解剖明确了诊断。 结果:颅疝仍然是一种重要的畸形,因为它本身就是一种严重的畸形,而且伴随其他畸形的比例很高。充分阐明病因对其他疾病也有指导意义。 结论颅疝可以在妊娠头三个月诊断出来。对于确诊为无脑畸形的患者,尤其应检查椎体。确诊颅疝时应仔细检查心脏、四肢和胸腹部。伴随其他异常的发生率很高。在未来的研究中,如果能了解颅底裂的病因,就能了解伴随这种异常的其他病因。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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