©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Pediatr. Dec 9, 2025; 14(4): 110750
Published online Dec 9, 2025. doi: 10.5409/wjcp.v14.i4.110750
Published online Dec 9, 2025. doi: 10.5409/wjcp.v14.i4.110750
Exploring Roberts syndrome, unique manifestations in a four-month-old infant and genetic findings: A case report
Samia Aziz Sulaiman, School of Medicine, The University of Jordan, Amman 11942, Jordan
Laith Kaylani, Dina K Mohammed, General Practitioner, The University of Jordan, Amman 11942, Jordan
Qusai Manaseer, Department of Orthopedics, The University of Jordan, Amman 11942, Jordan
Co-first authors: Samia Aziz Sulaiman and Laith Kaylani.
Author contributions: Kaylani L, Mohammed DK, Sulaiman SA, and Almanaseer Q have conceptualized and designed the study, coordinated and supervised the project, drafted the initial manuscript, and critically reviewed and revised the manuscript for important intellectual content; all authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Corresponding author: Samia Aziz Sulaiman, MD, School of Medicine, The University of Jordan, Queen Rania Street, Amman 11942, Jordan. samia.sulaiman2003@gmail.com
Received: June 17, 2025
Revised: June 23, 2025
Accepted: August 1, 2025
Published online: December 9, 2025
Processing time: 140 Days and 6.2 Hours
Revised: June 23, 2025
Accepted: August 1, 2025
Published online: December 9, 2025
Processing time: 140 Days and 6.2 Hours
Core Tip
Core Tip: Roberts syndrome is a rare but severe autosomal recessive disorder caused by mutations in the ESCO2 gene, characterized by limb malformations, growth restriction, and multisystem involvement. This case highlights the urgent need for early detection through integrated prenatal imaging and genetic testing, especially in consanguineous families, to enable timely diagnosis, guide clinical management, and support informed reproductive decision-making.