Suppr超能文献

母亲感染严重急性呼吸综合征冠状病毒2后出生的患有舌下囊肿、小颌畸形和全内脏反位的新生儿:一例报告

Newborn with Hypoglossia and Micrognathia with Situs Inversus Totalis Born to Mothers with SARS-CoV-2 Infection: A Case Report.

作者信息

Velisavljev-Filipovic Gordana M, Jovanov Ognjen

机构信息

Faculty of Medicine, University of Novi Sad, 21000 Novi Sad, Serbia.

Department of Neonatology, Institute for Child and Youth Health Care Vojvodina, 21000 Novi Sad, Serbia.

出版信息

Diseases. 2025 Jun 24;13(7):192. doi: 10.3390/diseases13070192.

Abstract

Hypoglossia and micrognathia are rare congenital malformations. They are most likely to occur after disruption of blastogenesis during embryonic development and formation of the first pharyngeal arch. They may be associated with other malformations such as otocephaly or hypogenesis syndrome of the oromandibular limb. We present the case of a female infant with hypoglossia, micrognathia, and situs inversus as a very rare triadic combination. This clinical presentation does not correspond to the description of existing syndromes. In the available literature, we were able to find only a small number of described cases that are somewhat similar to ours. The etiology of hypoglossia with micrognathia and situs inversus is unknown and has been attributed to both genetic and teratogenic causes. It is also unclear whether the combination of these three malformations can be classified as its own syndrome or not. Here, we present a child born from a pregnancy exposed to the SARS-CoV-2 virus in the first weeks of embryonic development, whose whole genome sequencing confirmed normality, as a contribution to elucidating the etiology of these congenital malformations. The possible influence of the SARS-CoV-2 virus on the occurrence of these anomalies and the exact mechanism of action should be confirmed in subsequent research.

摘要

舌下畸形和小颌畸形是罕见的先天性畸形。它们最有可能在胚胎发育过程中胚泡形成受到干扰以及第一鳃弓形成时出现。它们可能与其他畸形相关,如耳头畸形或口下颌肢体发育不全综合征。我们报告了一例患有舌下畸形、小颌畸形和内脏反位的女婴,这是一种非常罕见的三联征组合。这种临床表现与现有综合征的描述不符。在现有文献中,我们仅能找到少数与我们的病例有些相似的描述病例。舌下畸形合并小颌畸形和内脏反位的病因尚不清楚,已归因于遗传和致畸原因。这三种畸形的组合是否可归类为其自身的综合征也不清楚。在此,我们报告一名在胚胎发育的最初几周暴露于SARS-CoV-2病毒的孕妇所生的婴儿,其全基因组测序证实正常,以此为阐明这些先天性畸形的病因做出贡献。SARS-CoV-2病毒对这些异常发生的可能影响及其确切作用机制应在后续研究中得到证实。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/018c/12293980/d1596d2670fa/diseases-13-00192-g001.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验