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Publication Name World Journal of Clinical Pediatrics
Manuscript ID 124671
Country Colombia
Category Pediatrics
Manuscript Type Case Report
Article Title Schaaf-Yang syndrome in an infant from Bogotá, Colombia: A case report
Manuscript Source Unsolicited Manuscript
All Author List José Miguel Suescún Vargas, Juan José Restrepo Papagayo, Angie Martinez Amell and Andrés Vargas Ardila
Funding Agency and Grant Number
Corresponding Author José Miguel Suescún Vargas, MD, Department of Pediatrics, Universidad del Rosario, Calle 12C Nº 6-25, Bogota 11321, Bogotá, Colombia. jose.suescun@urosario.edu.co
Key Words Genetics; Genetic screening; Imprinting; Exome; Rare disease; Case report
Core Tip Infantile hypotonic syndrome in the general pediatric population poses a significant clinical challenge due to the wide heterogeneity of its manifestations and its diverse etiology. The importance of reporting the second case of Shaaf-Yang syndrome in Colombia goes beyond the uniqueness of this case; it contributes to the medical literature by highlighting the appropriate approach to managing a child with hypotonic syndrome and its systemic complications. This can serve as a guide when considering dysmorphic genetic syndromes, including specific complementary genetic testing, avoiding delays in diagnosis, and reducing complications in severe phenotypes, as demonstrated by the phenotype described throughout this report.
Citation Suescún Vargas JM, Restrepo Papagayo JJ, Martinez Amell A, Vargas Ardila A. Schaaf-Yang syndrome in an infant from Bogotá, Colombia: A case report. World J Clin Pediatr 2026; In press
Received
2026-06-23 05:59
Peer-Review Started
2026-06-23 06:00
First Decision by Editorial Office Director
Return for Revision
2026-07-15 07:10
Revised
2026-07-28 22:00
Publication Fee Transferred
2026-09-08 14:16
Second Decision by Editor
2026-09-21 02:40
Second Decision by Editor-in-Chief
Final Decision by Editorial Office Director
2026-09-21 09:45
Articles in Press
2026-09-21 09:45
Edit the Manuscript by Language Editor
Typeset the Manuscript
ISSN 2219-2808 (online)
Open Access This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Copyright ©Author(s) (or their employer(s)) 2026. No commercial re-use. See Permissions. Published by Baishideng Publishing Group Inc.
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