Body Stalk Syndrome - SBS: A Case Report
DOI:
https://doi.org/10.11606/issn.1679-9836.v105i2e-231513Keywords:
Prenatal Counseling, Fetal Abnormalities, Prenatal Diagnosis, Congenital Malformations, Body Stalk AnomalyAbstract
Body- Stalk Syndrome (BSS) is a rare and severe malformation syndrome, the exact pathophysiology and triggering factors of it are still unknown. This is the case of a 19-year-old primigravida patient who underwent her first transvaginal obstetric ultrasound at 6 weeks of gestation. At 11 weeks, the first-semester morphological ultrasound scan revealed nuchal translucency at the 95th percentile and protruding image at the caudal pole of the embryo, suggesting a congenital abnormality. At 13 weeks, the patient began follow-up at a specialized hospital due to the high- risk pregnancy. At 36 weeks, a cesarean section was performed and the conceptus was born with congenital anomalies, including ectopia cordi, kyphoscoliosis, and short umbilical cord, and died after 4 hours. Postmortem analysis confirmed the presence of malformations characteristic of BSS. Due to the severe malformation incompatible with life, the syndrome was diagnosed and confirmed. This report contributes not only to statistics, but also to the doctor and scientific community, connecting what is hypothetical with what is technical evidence. This prevents underreporting of new cases and allows more studies to be carried out so that we can intervene early, since this is a lethal condition in utero or in the neonatal period.
Downloads
References
1. Stephenson C, Lokwood CJ, Mackenzie AP. Body stalk anomaly and cloacal exstrophy [Internet]. UpToDate. 2022. https://pro.uptodatefree.ir/Show/6770
2. Pippi FP, Moreno ME, Molena JL, Alves MHL, Lopes RGO, Amorim GEDP, et al. Anomalia Body Stalk: um relato de caso. Revistalit. 27(126):10. Doi https://doi.org/10.5281/zenodo.8345300
3. Adeleke O, Gill F, Krishnan R. Rare Presentation of Limb–Body Wall Complex in a Neonate: Case Report and Review of Literature. AJP Rep 2022;12(01):e108–12. Doi: https://doi.org/10.1055/a-1740-5463.
4. Russo R, D'Armiento M, Angrisani P, Vecchione R. Limb body wall complex: a critical review and a nosological proposal. Am J Med Genet. 1993;47(6):893-900. Doi: 10.1002/ajmg.1320470617
5. Gică N, Apostol LM, Huluță I, et al. Body Stalk Anomaly. Diagnostics 2024;14(5):518.
6. Yang Y, Wang H, Wang Z, Pan X, Chen Y. First trimester diagnosis of body stalk anomaly complicated by ectopia cordis. J Int Med Res. 2020;48(12):300060520980210. Doi: 10.1177/0300060520980210.
7. Ginsberg NE, Cadkin A, Strom C. Prenatal diagnosis of body stalk anomaly in the first trimester of pregnancy. Ultrasound Obstet Gynecol. 1997;10(6):419-21. Doi: 10.1046/j.1469-0705.1997.10060419.x.
8. Kocherla K, Kumari V, Kocherla PR. Prenatal diagnosis of body stalk complex: A rare entity and review of literature. Indian J Radiol Imaging. 2015;25(1):67-70. Doi: 10.4103/0971-3026.150162.
9. Lazaroni TLDN, Cruzeiro PCF, Piçarro C, Victoria AM, Botelho Filho FM, Tatsuo ES, et al. Body stalk anomaly: Three months of survival. Case report and literature review. J Pediat Surg Case Rep. 2016;14:22–5. DOI; https://doi.org/10.1016/j.epsc.2016.08.004.
10. Smrcek JM, Germer U, Krokowski M, Berg C, Krapp M, Geipel A, et al. Diagnóstico e manejo pré-natal por ultrassom de anomalia do cordão umbilical: análise de nove gestações únicas e duas múltiplas. Ultrasound Obstet Gynecol. 2003;21:322-8. Doi: https://doi.org/10.1002/uog.84
11. Nagase H, Ohyama M, Yamamoto M, Akamatsu C, Miyake Y, Nagashima A, et al. Achados ultrassonográficos pré-natais e resultados fetais/neonatais da anomalia do caule corporal. Anom Congênito (Quioto). 2021;61(4):118-26. Doi: 10.1111/cga.12412.
12. Calhoun BD. Perinatal Hospice: Compassionate and Comprehensive Care for Families with Lethal Prenatal Diagnosis. Linacre Q 2010;77(2):147–56. Doi: https://doi.org/10.1179/002436310803888817.
13. Wool C. State of the science on perinatal palliative care. J Obstet Gynecol Neonatal Nurs. 2013;42(3):372-82; quiz E54-5. Doi: 10.1111/1552-6909.12034.
14. Bolibio R, Jesus RCA, Oliveira FF3, Gibelli MABC, Benute GRG, Gomes AL, et al. Cuidados paliativos em medicina fetal. Rev Med (São Paulo). 2018;97(2):208-15. Doi: http://dx.doi.org/10.11606/issn.1679-9836.v97i2p208-215
15. Rossini MDM, Stamm AMNDF. Malformação fetal incompatível com a vida: conduta de neonatologistas. Rev Bioét 2020;28(3):531–6. Doi: 10.1590/1983-80422020283417
16. Westphal F, Fustinoni SM, Pinto VL, Melo PDS, Abrahão AR. Association of gestational age with the option of pregnancy termination for fetal abnormalities incompatible with neonatal survival. Einstein (São Paulo) 2016;14(3):311–6. Doi: https://doi.org/10.1590/S1679-45082016AO3721
17. Wilkinson D, Crespigny L, Xafis V. Ethical language and decision-making for prenatally diagnosed lethal malformations. Semin Fetal Neonatal Med. 2014;19(5):306-11. Doi: 10.1016/j.siny.2014.08.007. Erratum in: Semin Fetal Neonatal Med. 2015;20(1):64. Doi: 10.1016/j.siny.2014.10.007.
18. Pastura PSVC, Land MGP. Crianças com múltiplas malformações congênitas: quais são os limites entre obstinação terapêutica e tratamento de benefício duvidoso? Rev Paul Pediatr 2017;35(1):110–4. Doi: https://doi.org/10.1590/1984-0462/;2017;35;1;00004
Downloads
Published
Issue
Section
License
Copyright (c) 2026 Andreia Scandolara, Francieli Tiecher, Matheus Arengheri Vicente, Mikaella Oliveira Ramos, Gabriel Karam Araújo, Lirane Elize Defante Ferreto
This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.
