Omullo FP, Shahabi K, Kitheghe TK, Mutuku B, Simiyu BW. Phocomelia: Bilateral limb deficiency in a neonate: A case report. World J Clin Pediatr 2025; 14(3): 106524 [DOI: 10.5409/wjcp.v14.i3.106524]
Corresponding Author of This Article
Felix Pius Omullo, MD, Researcher, Department of Pediatrics and Child Health, Murang’a County Referral Hospital, Kiharu Township, Murang'a 10200, Central, Kenya. piuskirasia@gmail.com
Research Domain of This Article
Pediatrics
Article-Type of This Article
Case Report
Open-Access Policy of This Article
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/
World J Clin Pediatr. Sep 9, 2025; 14(3): 106524 Published online Sep 9, 2025. doi: 10.5409/wjcp.v14.i3.106524
Phocomelia: Bilateral limb deficiency in a neonate: A case report
Felix Pius Omullo, Kimiya Shahabi, Thomas Kimanzi Kitheghe, Brian Mutuku, Benjamin Wafula Simiyu
Felix Pius Omullo, Thomas Kimanzi Kitheghe, Department of Pediatrics and Child Health, Murang’a County Referral Hospital, Murang'a 10200, Central, Kenya
Kimiya Shahabi, Faculty of Medicine, Tehran Medical Sciences, Islamic Azad University, Tehran 1417613151, Iran
Brian Mutuku, Department of Medicine, Maseno University, Kisumu 3275-40100, Kenya
Benjamin Wafula Simiyu, School of Medicine, College of Health Sciences, Uzima University, Kisumu 2502 - 40100, Kisumu, Kenya
Co-first authors: Felix Pius Omullo and Kimiya Shahabi.
Author contributions: Omullo FP contributed to conceptualization, data collection, drafting of the manuscript, and critical revision; Shahabi K contributed to literature review, manuscript drafting, and editing; Kitheghe TK contributed to data interpretation, case presentation refinement, and manuscript review; Mutuku B contributed to manuscript formatting, figure preparation, and reference management; Simiyu BW contributed to supervision, critical revision, and final approval of the manuscript.
Informed consent statement: Written informed consent was obtained from the patient’s parents to publish this case report and accompanying image. This case report complies with ethical guidelines, including the Declaration of Helsinki, and institutional approval was obtained where required.
Conflict-of-interest statement: All authors declare no conflicts of interest related to this case report.
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: Felix Pius Omullo, MD, Researcher, Department of Pediatrics and Child Health, Murang’a County Referral Hospital, Kiharu Township, Murang'a 10200, Central, Kenya. piuskirasia@gmail.com
Received: February 28, 2025 Revised: March 28, 2025 Accepted: April 11, 2025 Published online: September 9, 2025 Processing time: 108 Days and 19.1 Hours
Abstract
BACKGROUND
Phocomelia is a rare congenital disorder characterized by the absence or underdevelopment of the proximal limbs. Phocomelia can occur as a syndrome or a limb-specific deformity. While historically linked to thalidomide, non-thalidomide causes include genetic mutations, vascular disruptions, and teratogenic exposures. This case highlights the diagnostic and therapeutic challenges in a neonate with bilateral phocomelia, low birth weight, asphyxia and jaundice.
CASE SUMMARY
We report a 2-week-old term neonate with bilateral phocomelia, micrognathia, jaundice, and low birth weight. The pregnancy was unremarkable, with no thalidomide exposure. The mother had a history of early pregnancy losses. Clinical evaluation revealed absent humeri and radii bilaterally, with hands attached proximally to the trunk. Genetic testing was not performed, limiting the identification of underlying etiology. The patient was managed with supportive care, parental counseling, and planning for long-term rehabilitation. This case underscores the importance of multidisciplinary care in managing congenital anomalies. Genetic evaluation is crucial in unexplained congenital anomalies. Routine detailed ultrasounds in high-risk pregnancies aid in early diagnosis and parental preparedness.
CONCLUSION
Bilateral phocomelia presents significant functional challenges. Comprehensive diagnostic workups and early rehabilitation strategies are essential for optimizing patient outcomes.
Core Tip: This rare case of bilateral phocomelia in a neonate highlights the diagnostic and rehabilitative challenges in resource-limited settings and underscores the value of early detection, genetic workup, and multidisciplinary care.
