Simpson-Golabi-Behmel syndrome in one of the Dichorionic-diamniotic twin: a case report and literature review

BACKGROUND: Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked overgrowth syndrome. The main clinical manifestations are overgrowth and multiple malformations. CASE PRESENTATION: A 38-year-old Chinese woman was pregnant with dichorionic-diamniotic (DCDA) twins after in-vitro fertilization. Ser...

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Autores principales: Guo, Yongbing, Zhang, Huijing, Fan, Lixin, Chen, Junya, Zhang, Xiaoxiao, Yang, Huixia, Sun, Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8762945/
https://www.ncbi.nlm.nih.gov/pubmed/35038998
http://dx.doi.org/10.1186/s12884-021-04309-z
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author Guo, Yongbing
Zhang, Huijing
Fan, Lixin
Chen, Junya
Zhang, Xiaoxiao
Yang, Huixia
Sun, Yu
author_facet Guo, Yongbing
Zhang, Huijing
Fan, Lixin
Chen, Junya
Zhang, Xiaoxiao
Yang, Huixia
Sun, Yu
author_sort Guo, Yongbing
collection PubMed
description BACKGROUND: Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked overgrowth syndrome. The main clinical manifestations are overgrowth and multiple malformations. CASE PRESENTATION: A 38-year-old Chinese woman was pregnant with dichorionic-diamniotic (DCDA) twins after in-vitro fertilization. Series of ultrasound examinations indicated that the measurements (abdominal circumference and estimated foetal weight) of one twin were significantly greater than those of the other one. The genetic testing results of the larger baby indicated of Simpson-Golabi-Behmel syndrome. CONCLUSION: SGBS is difficult to diagnose due to different clinical manifestations. Clinicians need to be more aware of typical SGBS’s clinical findings and choose genetic testing methods individually to improve its prenatal diagnosis.
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spelling pubmed-87629452022-01-18 Simpson-Golabi-Behmel syndrome in one of the Dichorionic-diamniotic twin: a case report and literature review Guo, Yongbing Zhang, Huijing Fan, Lixin Chen, Junya Zhang, Xiaoxiao Yang, Huixia Sun, Yu BMC Pregnancy Childbirth Case Report BACKGROUND: Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked overgrowth syndrome. The main clinical manifestations are overgrowth and multiple malformations. CASE PRESENTATION: A 38-year-old Chinese woman was pregnant with dichorionic-diamniotic (DCDA) twins after in-vitro fertilization. Series of ultrasound examinations indicated that the measurements (abdominal circumference and estimated foetal weight) of one twin were significantly greater than those of the other one. The genetic testing results of the larger baby indicated of Simpson-Golabi-Behmel syndrome. CONCLUSION: SGBS is difficult to diagnose due to different clinical manifestations. Clinicians need to be more aware of typical SGBS’s clinical findings and choose genetic testing methods individually to improve its prenatal diagnosis. BioMed Central 2022-01-17 /pmc/articles/PMC8762945/ /pubmed/35038998 http://dx.doi.org/10.1186/s12884-021-04309-z Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Guo, Yongbing
Zhang, Huijing
Fan, Lixin
Chen, Junya
Zhang, Xiaoxiao
Yang, Huixia
Sun, Yu
Simpson-Golabi-Behmel syndrome in one of the Dichorionic-diamniotic twin: a case report and literature review
title Simpson-Golabi-Behmel syndrome in one of the Dichorionic-diamniotic twin: a case report and literature review
title_full Simpson-Golabi-Behmel syndrome in one of the Dichorionic-diamniotic twin: a case report and literature review
title_fullStr Simpson-Golabi-Behmel syndrome in one of the Dichorionic-diamniotic twin: a case report and literature review
title_full_unstemmed Simpson-Golabi-Behmel syndrome in one of the Dichorionic-diamniotic twin: a case report and literature review
title_short Simpson-Golabi-Behmel syndrome in one of the Dichorionic-diamniotic twin: a case report and literature review
title_sort simpson-golabi-behmel syndrome in one of the dichorionic-diamniotic twin: a case report and literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8762945/
https://www.ncbi.nlm.nih.gov/pubmed/35038998
http://dx.doi.org/10.1186/s12884-021-04309-z
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