Sulaiman SA, Kaylani L, Manaseer Q, Mohammed DK. Exploring Roberts syndrome, unique manifestations in a four-month-old infant and genetic findings: A case report. World J Clin Pediatr 2025; 14(4): 110750 [DOI: 10.5409/wjcp.v14.i4.110750]
Corresponding Author of This Article
Samia Aziz Sulaiman, MD, School of Medicine, The University of Jordan, Queen Rania Street, Amman 11942, Jordan. samia.sulaiman2003@gmail.com
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Pediatrics
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Case Report
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This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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/
Dec 9, 2025 (publication date) through Oct 31, 2025
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World Journal of Clinical Pediatrics
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2219-2808
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Sulaiman SA, Kaylani L, Manaseer Q, Mohammed DK. Exploring Roberts syndrome, unique manifestations in a four-month-old infant and genetic findings: A case report. World J Clin Pediatr 2025; 14(4): 110750 [DOI: 10.5409/wjcp.v14.i4.110750]
World J Clin Pediatr. Dec 9, 2025; 14(4): 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, Laith Kaylani, Qusai Manaseer, Dina K Mohammed
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).
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: https://creativecommons.org/Licenses/by-nc/4.0/
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: 139 Days and 19.3 Hours
Abstract
BACKGROUND
Roberts syndrome (RS) is a rare autosomal recessive cohesinopathy caused by biallelic mutations in ESCO2, essential for sister chromatid cohesion and genomic stability. Clinically, RS manifests as severe pre- and postnatal growth restriction, tetraphocomelia, craniofacial anomalies, and variable visceral organ malformations. Prenatal suspicion is often raised by ultrasonographic evidence of limb reduction and fetal hypotrophy. However, diagnosis remains elusive without molecular confirmation. This case underscores the diagnostic and prognostic value of next-generation sequencing in suspected RS, particularly within consanguineous populations where autosomal recessive conditions are more prevalent.
CASE SUMMARY
A four-month-old male infant, born to consanguineous parents, was referred for evaluation of multiple congenital anomalies. Prenatal ultrasonography demonstrated significant intrauterine growth restriction, bilateral upper limb absence of radius and ulna at 22 weeks, and unilateral renal pelvis dilation at 38 weeks. Postnatal findings included bilateral phocomelia, thumb aplasia, and flexion contractures at the elbows and knees. Physical examination revealed features consistent with cohesinopathy. Whole exome sequencing identified a homozygous pathogenic variant in ESCO2, confirming RS. Multisystemic involvement warranted early multidisciplinary coordination and genetic counseling for recurrence risk.
CONCLUSION
This case supports redefining isolated limb anomalies as early indicators warranting targeted prenatal genetic screening for cohesinopathies like RS.
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.
