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

被引:2
作者
Huisman, Laura M. [1 ]
Huisman, Thierry A. G. M. [1 ]
机构
[1] Texas Childrens Hosp, Baylor Coll Med, Edward B Singleton Dept Pediat Radiol, Houston, TX 77030 USA
来源
CHILDREN-BASEL | 2023年 / 10卷 / 10期
关键词
Zellweger; Kartagener; Prader-Willi; Schinzel-Giedion; Fanconi; Joubert-Boltshauser; Poretti-Boltshauser; Langer-Giedion; syndromes; imaging; history; LANGER-GIEDION SYNDROME; ABNORMAL EYE-MOVEMENTS; NEUROIMAGING FINDINGS; JOUBERT-SYNDROME; CEREBELLAR DYSPLASIA; EPISODIC HYPERPNEA; ATAXIA; CYSTS; DISORDERS; MR;
D O I
10.3390/children10101668
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
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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页数:17
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