Language
English
Publication Date
10-9-2023
Journal
Children
DOI
10.3390/children10101668
PMID
37892331
PMCID
PMC10605885
PubMedCentral® Posted Date
10-9-2023
PubMedCentral® Full Text Version
Post-print
Abstract
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.
Keywords
Zellweger, Kartagener, Prader-Willi, Schinzel-Giedion, Fanconi, Joubert-Boltshauser, Poretti-Boltshauser, Langer-Giedion, syndromes, imaging, history
Published Open-Access
yes
Recommended Citation
Laura M Huisman and Thierry A G M Huisman, "World-Renowned "Swiss" Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective" (2023). Faculty and Staff Publications. 5401.
https://digitalcommons.library.tmc.edu/baylor_docs/5401