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World-Renowned “Swiss” Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective

The goal of this manuscript is to present and summarize several rare pediatric syndromes (Zellweger syndrome, Kartagener syndrome, Prader-Willi syndrome, Schinzel-Giedion syndrome, Fanconi anemia, Joubert-Boltshauser syndrome, Poretti-Boltshauser syndrome, and Langer-Giedion syndrome) who have been...

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Detalles Bibliográficos
Autores principales: Huisman, Laura M., Huisman, Thierry A. G. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10605885/
https://www.ncbi.nlm.nih.gov/pubmed/37892331
http://dx.doi.org/10.3390/children10101668
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author Huisman, Laura M.
Huisman, Thierry A. G. M.
author_facet Huisman, Laura M.
Huisman, Thierry A. G. M.
author_sort Huisman, Laura M.
collection PubMed
description The goal of this manuscript is to present and summarize several rare pediatric syndromes (Zellweger syndrome, Kartagener syndrome, Prader-Willi syndrome, Schinzel-Giedion syndrome, Fanconi anemia, Joubert-Boltshauser syndrome, Poretti-Boltshauser syndrome, and Langer-Giedion syndrome) who have been named after luminary “Swiss” physicians (pediatricians, pediatric neurologists, or pediatric radiologists) who recognized, studied, and published these syndromes. In this manuscript, a brief historical summary of the physicians is combined with the key clinical symptoms at presentation and the typical imaging findings. This manuscript is not aiming to give a complete comprehensive summary of the syndromes, nor does it ignore the valuable contributions of many “Swiss” scientists who are not included here, but focuses on several rare syndromes that benefit from imaging data.
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spelling pubmed-106058852023-10-28 World-Renowned “Swiss” Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective Huisman, Laura M. Huisman, Thierry A. G. M. Children (Basel) Review The goal of this manuscript is to present and summarize several rare pediatric syndromes (Zellweger syndrome, Kartagener syndrome, Prader-Willi syndrome, Schinzel-Giedion syndrome, Fanconi anemia, Joubert-Boltshauser syndrome, Poretti-Boltshauser syndrome, and Langer-Giedion syndrome) who have been named after luminary “Swiss” physicians (pediatricians, pediatric neurologists, or pediatric radiologists) who recognized, studied, and published these syndromes. In this manuscript, a brief historical summary of the physicians is combined with the key clinical symptoms at presentation and the typical imaging findings. This manuscript is not aiming to give a complete comprehensive summary of the syndromes, nor does it ignore the valuable contributions of many “Swiss” scientists who are not included here, but focuses on several rare syndromes that benefit from imaging data. MDPI 2023-10-09 /pmc/articles/PMC10605885/ /pubmed/37892331 http://dx.doi.org/10.3390/children10101668 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Huisman, Laura M.
Huisman, Thierry A. G. M.
World-Renowned “Swiss” Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective
title World-Renowned “Swiss” Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective
title_full World-Renowned “Swiss” Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective
title_fullStr World-Renowned “Swiss” Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective
title_full_unstemmed World-Renowned “Swiss” Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective
title_short World-Renowned “Swiss” Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective
title_sort world-renowned “swiss” pediatricians, their syndromes, and matching imaging findings: a historical perspective
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10605885/
https://www.ncbi.nlm.nih.gov/pubmed/37892331
http://dx.doi.org/10.3390/children10101668
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