Diagnosis of neonatal neurofibromatosis type 1: a case report and review of the literature

BACKGROUND: Neurofibromatosis Type 1 (NF1) is a rare genetic disorder characterized with the development of multiple benign tumors on the nerves and skin. CASE PRESENTATION: This report described a neonatal case with a large mass observed on the left side of the maxillofacial and cervical region at...

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Autores principales: Zheng, Qiuying, Xia, Bei, Zhao, Xiaoli, Wang, Ruijie, Xie, Fusui, Pei, Nihui, Tao, Hongwei, Ding, Tingting, Liu, Lei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10207855/
https://www.ncbi.nlm.nih.gov/pubmed/37226143
http://dx.doi.org/10.1186/s12887-023-04077-z
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author Zheng, Qiuying
Xia, Bei
Zhao, Xiaoli
Wang, Ruijie
Xie, Fusui
Pei, Nihui
Tao, Hongwei
Ding, Tingting
Liu, Lei
author_facet Zheng, Qiuying
Xia, Bei
Zhao, Xiaoli
Wang, Ruijie
Xie, Fusui
Pei, Nihui
Tao, Hongwei
Ding, Tingting
Liu, Lei
author_sort Zheng, Qiuying
collection PubMed
description BACKGROUND: Neurofibromatosis Type 1 (NF1) is a rare genetic disorder characterized with the development of multiple benign tumors on the nerves and skin. CASE PRESENTATION: This report described a neonatal case with a large mass observed on the left side of the maxillofacial and cervical region at birth. Meantime, multiple cafe-au-lait macules (CALMs) were seen on the trunk and both lower extremities. CONCLUSIONS: In this case, the clinical features of the rare NF1 neonate are discussed along with its ultrasound findings.
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spelling pubmed-102078552023-05-25 Diagnosis of neonatal neurofibromatosis type 1: a case report and review of the literature Zheng, Qiuying Xia, Bei Zhao, Xiaoli Wang, Ruijie Xie, Fusui Pei, Nihui Tao, Hongwei Ding, Tingting Liu, Lei BMC Pediatr Case Report BACKGROUND: Neurofibromatosis Type 1 (NF1) is a rare genetic disorder characterized with the development of multiple benign tumors on the nerves and skin. CASE PRESENTATION: This report described a neonatal case with a large mass observed on the left side of the maxillofacial and cervical region at birth. Meantime, multiple cafe-au-lait macules (CALMs) were seen on the trunk and both lower extremities. CONCLUSIONS: In this case, the clinical features of the rare NF1 neonate are discussed along with its ultrasound findings. BioMed Central 2023-05-24 /pmc/articles/PMC10207855/ /pubmed/37226143 http://dx.doi.org/10.1186/s12887-023-04077-z Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This 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
Zheng, Qiuying
Xia, Bei
Zhao, Xiaoli
Wang, Ruijie
Xie, Fusui
Pei, Nihui
Tao, Hongwei
Ding, Tingting
Liu, Lei
Diagnosis of neonatal neurofibromatosis type 1: a case report and review of the literature
title Diagnosis of neonatal neurofibromatosis type 1: a case report and review of the literature
title_full Diagnosis of neonatal neurofibromatosis type 1: a case report and review of the literature
title_fullStr Diagnosis of neonatal neurofibromatosis type 1: a case report and review of the literature
title_full_unstemmed Diagnosis of neonatal neurofibromatosis type 1: a case report and review of the literature
title_short Diagnosis of neonatal neurofibromatosis type 1: a case report and review of the literature
title_sort diagnosis of neonatal neurofibromatosis type 1: a case report and review of the literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10207855/
https://www.ncbi.nlm.nih.gov/pubmed/37226143
http://dx.doi.org/10.1186/s12887-023-04077-z
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