Limb–body wall complex: Literature review and case report

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research Pub Date : 2024-03-05 DOI:10.1002/bdr2.2322

Omar Daniel Cortés-Enríquez, Claudia Vanessa Tapia-Fonseca, María Angelina Torres-Fuentes, Paola Berenice Torres-Riojas, Laura Patricia Raya-Garza

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引用次数: 0

Abstract

Introduction

Body wall anomalies comprise a wide range of malformations. Limb–Body wall complex (LBWC) represents the most severe presentation of this group, with life threatening malformations in practically all the cases, including craniofacial, body wall defects, and limb anomalies. There is no consensus about its etiology and folding and gastrulation defects have been involved. Also, impaired angiogenesis has been proposed as a causative process.

Case Report

We present the case of a masculine stillborn, product of the first pregnancy in a 15-year-old, apparently healthy mother. He was delivered at 31 weeks of gestation due to an early rupture of membranes. He presented with multiple malformations including a wide body wall defect with multiple organ herniation and meromelia of the lower right limb.

Discussion and Conclusions

LBWC represents a severe and invariably fatal pathology. There are no described risk factors, nevertheless, this case presented in a teenage mother, a well-described risk factor for other body wall anomalies. Its diagnosis allows us to discriminate between other pathologies that require prenatal or postnatal specialized treatment.

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肢体壁复合体：文献综述和病例报告。

导言：体壁畸形包括多种畸形。肢体-体壁复合畸形（Limb-Body Wall complex，LBWC）是这类畸形中最严重的一种，几乎所有病例都存在危及生命的畸形，包括颅面部、体壁缺损和肢体畸形。目前对其病因尚未达成共识，折叠和胚胎发育缺陷也与之有关。此外，血管生成障碍也被认为是一个致病过程：病例报告：我们接诊了一例男性死胎，是一位 15 岁、表面上健康的母亲第一次怀孕的产物。他在妊娠 31 周时因胎膜早破而娩出。他有多处畸形，包括体壁宽大缺损、多脏器疝出和右下肢梅花状畸形：讨论和结论：脐带绕颈症是一种严重的病理现象，而且总是致命的。然而，本病例的母亲是一名少女，这也是导致其他体壁畸形的危险因素。对该病例的诊断有助于我们区分其他需要产前或产后专门治疗的病症。

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

Birth Defects Research Medicine-Embryology

CiteScore

3.60

自引率

9.50%

发文量

153

期刊介绍： The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks. Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.