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Prenatal ultrasound findings of ectodermal dysplasia: a case report

BACKGROUND: Ectodermal Dysplasia is a diverse group of inherited disorders characterized by a congenital defect in two or more ectodermal structures. Due to a fairly low incidence, to the best of our knowledge there are few clues that can assist in making an effective prenatal ultrasound diagnosis....

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Autores principales: Li, Liang, Zhou, Yi, Tian, Ruixia, Zhang, Chaoxue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8815157/
https://www.ncbi.nlm.nih.gov/pubmed/35120471
http://dx.doi.org/10.1186/s12884-022-04430-7
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author Li, Liang
Zhou, Yi
Tian, Ruixia
Zhang, Chaoxue
author_facet Li, Liang
Zhou, Yi
Tian, Ruixia
Zhang, Chaoxue
author_sort Li, Liang
collection PubMed
description BACKGROUND: Ectodermal Dysplasia is a diverse group of inherited disorders characterized by a congenital defect in two or more ectodermal structures. Due to a fairly low incidence, to the best of our knowledge there are few clues that can assist in making an effective prenatal ultrasound diagnosis. Currently, the prenatal diagnosis of ectodermal dysplasia depends on a fetal genetic test combined with the family history. In this case report, we present a fetal case of ectodermal dysplasia with a remarkable prenatal ultrasound image, genetic testing, family history, and relevant exams of the stillbirth. CASE PRESENTATION: A multipara with a 22-week singleton male pregnancy undergoing a fetal ultrasound examination. The image showed a hypoplastic maxilla and mandible. Subsequently, the ectodermal dysplasia was defined using a family history and genetic testing. The skin pathology from the aborted fetus demonstrated a hypohidrotic type. The computed tomography (CT) reconstruction after induced labor confirmed the prenatal ultrasound findings of the maxilla and mandible. CONCLUSIONS: This case suggested that prenatal ultrasound may provide a valuable clue of ectodermal dysplasia. The diagnosis can be established using further prenatal genetic testing and a family history.
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spelling pubmed-88151572022-02-07 Prenatal ultrasound findings of ectodermal dysplasia: a case report Li, Liang Zhou, Yi Tian, Ruixia Zhang, Chaoxue BMC Pregnancy Childbirth Case Report BACKGROUND: Ectodermal Dysplasia is a diverse group of inherited disorders characterized by a congenital defect in two or more ectodermal structures. Due to a fairly low incidence, to the best of our knowledge there are few clues that can assist in making an effective prenatal ultrasound diagnosis. Currently, the prenatal diagnosis of ectodermal dysplasia depends on a fetal genetic test combined with the family history. In this case report, we present a fetal case of ectodermal dysplasia with a remarkable prenatal ultrasound image, genetic testing, family history, and relevant exams of the stillbirth. CASE PRESENTATION: A multipara with a 22-week singleton male pregnancy undergoing a fetal ultrasound examination. The image showed a hypoplastic maxilla and mandible. Subsequently, the ectodermal dysplasia was defined using a family history and genetic testing. The skin pathology from the aborted fetus demonstrated a hypohidrotic type. The computed tomography (CT) reconstruction after induced labor confirmed the prenatal ultrasound findings of the maxilla and mandible. CONCLUSIONS: This case suggested that prenatal ultrasound may provide a valuable clue of ectodermal dysplasia. The diagnosis can be established using further prenatal genetic testing and a family history. BioMed Central 2022-02-04 /pmc/articles/PMC8815157/ /pubmed/35120471 http://dx.doi.org/10.1186/s12884-022-04430-7 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
Li, Liang
Zhou, Yi
Tian, Ruixia
Zhang, Chaoxue
Prenatal ultrasound findings of ectodermal dysplasia: a case report
title Prenatal ultrasound findings of ectodermal dysplasia: a case report
title_full Prenatal ultrasound findings of ectodermal dysplasia: a case report
title_fullStr Prenatal ultrasound findings of ectodermal dysplasia: a case report
title_full_unstemmed Prenatal ultrasound findings of ectodermal dysplasia: a case report
title_short Prenatal ultrasound findings of ectodermal dysplasia: a case report
title_sort prenatal ultrasound findings of ectodermal dysplasia: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8815157/
https://www.ncbi.nlm.nih.gov/pubmed/35120471
http://dx.doi.org/10.1186/s12884-022-04430-7
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