Rare Presentation of Limb–Body Wall Complex in a Neonate: Case Report and Review of Literature

Author:

Adeleke Omoloro1,Gill Farrukh2,Krishnan Ramesh1ORCID

Affiliation:

1. Department of Pediatrics, The University of Tennessee Health Science Center, Memphis, Tennessee

2. Department of Pathology, The University of Tennessee Health Science Center, Memphis, Tennessee

Abstract

AbstractThe limb–body wall complex (LBWC) aka body stalk syndrome is an uncommon congenital disorder characterized by severe malformations of limb, thorax, and abdomen, characterized by the presence of thoracoschisis, abdominoschisis, limb defects, and exencephaly. This condition is extremely rare with an incidence of 1 per 14,000 and 1 per 31,000 pregnancies in large epidemiologic studies. Majority of these malformed fetuses end up with spontaneous abortions. We present this rare case with occurrence in a preterm infant of 35 weeks' gestation. Our report highlights majority of the clinical presentations as reported in previous literature, but the significant pathological findings of absent genitalia and malformed genitourinary as well as anorectal malformations make this case presentation an even more rare occurrence. Infant karyotyping was normal male and there is no specific underlying genetic correlation in this condition which has a fatal prognosis.

Publisher

Georg Thieme Verlag KG

Subject

Obstetrics and Gynecology,Pediatrics, Perinatology and Child Health

Reference16 articles.

1. Limb-body wall complex: a case series;B Luehr;J Matern Fetal Neonatal Med,2002

2. Limb body wall complex: I. Pathogenesis;M I Van Allen;Am J Med Genet,1987

3. Limb body wall complex: a critical review and a nosological proposal;R Russo;Am J Med Genet,1993

4. Clinical and epidemiological characteristics of infants with body wall complex with and without limb deficiency;M L Martínez-Frías;Am J Med Genet,1997

5. Amniotic band sequence: Streeter's hypothesis reexamined;J S Bamforth;Am J Med Genet,1992

Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Síndrome De Body Stalk: Relato De Caso;Journal of Medical Residency Review;2022-11-22

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3