Early detection of Emanuel syndrome: a case report

IF 0.1 Q4 OBSTETRICS & GYNECOLOGY

Case Reports in Perinatal Medicine Pub Date : 2020-12-10 DOI:10.1515/crpm-2020-0049

Taddei Edoardo, Sartori Elena, Raio Luigi, Papadia Andrea

引用次数: 1

Abstract

Abstract Objectives Emanuel syndrome is a rare inherited syndrome, a correct in utero diagnosis allows effective management for ongoing and future pregnancies. Case presentation Here, we report a case of a complete non-mosaic trisomy 22, with several prenatal sonographic findings, that was diagnosed in utero at 15 weeks’ gestation and then it was confirmed with chromosomal analysis and postmortem examination. Conclusions Every anatomical difference should always be further investigated in order to achieve the correct diagnosis.

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早期发现伊曼纽尔综合征1例报告

摘要目的伊曼纽尔综合征是一种罕见的遗传综合征，正确的宫内诊断可以有效地管理正在进行和未来的妊娠。在这里，我们报告了一个完整的非马赛克22三体病例，有几个产前超声检查结果，在妊娠15周的子宫内被诊断出来，然后通过染色体分析和尸检证实。结论每一种解剖差异都应进一步检查，以获得正确的诊断。

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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来源期刊

Case Reports in Perinatal Medicine OBSTETRICS & GYNECOLOGY-

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发文量

期刊介绍： Case Reports in Perinatal Medicine is a double-blind peer-reviewed journal. The objective of the new journal is very similar to that of JPM. In addition to evidence-based studies, practitioners in clinical practice esteem especially exemplary reports of cases that reveal specific manifestations of diseases, its progress or its treatment. We consider case reports and series to be brief reports describing an isolated clinical case or a small number of cases. They may describe new or uncommon diagnoses, unusual outcomes or prognosis, new or infrequently used therapies and side effects of therapy not usually discovered in clinical trials. They represent the basic concept of experiences for studies on representative groups for further evidence-based research. The potential roles of case reports and case series are: Recognition and description of new diseases Detection of drug side effects (adverse or beneficial) Study of mechanisms of disease Medical education and audit Recognition of rare manifestations of disease.