Wormian bones: expanded differential diagnosis and implications for abnormal head shape in infancy

TL;DR

Wormian bones are extra skull bones that are more common than craniosynostosis and should be considered in diagnosing abnormal head shapes in infants.

Contribution

The study provides a large-scale analysis of Wormian bones in pediatric patients and their clinical associations.

Findings

Wormian bones were found in 0.57% of institutional CT scans and 2.1% of clinic patients.

The lambdoid suture was the most common location for Wormian bones.

Wormian bones often co-occurred with craniosynostosis or other skeletal conditions.

Abstract

Wormian bones (WB) are accessory ossicles that develop within cranial sutures. While typically benign, their presence in large numbers has been associated with various genetic and developmental disorders. This study aims to characterize the prevalence, anatomical distribution, and clinical associations of WB in a pediatric population undergoing cranial CT imaging.

A retrospective review was conducted at Monroe Carell Jr. Children’s Hospital at Vanderbilt. Pediatric patients aged 0 to 18 years who underwent cranial CT imaging for any clinical indication were included. WB were radiologically confirmed, and demographic data, cephalic index, and comorbidities were collected and analyzed.

Among the 13,519 patients who underwent cranial CT imaging, 77 (0.57%) had radiologically confirmed WB, totaling 476 ossicles. The prevalence increased to 2.1% when examining our clinic cohort over a 5-year period. The lambdoid suture was the most common site (343/476, 72.1%), followed by the posterior fontanelle (53/476, 11.1%). Multiple WB (≥ 2) represented the most common phenotype (52/77, 67.5% of cases), and 13 patients (16.8%) had at least one associated skeletal or craniofacial condition, most commonly craniosynostosis (10/13, 76.9%). Cephalic index analysis demonstrated a predominance of brachycephaly (54/77, 70.1%).

This study presents a comprehensive evaluation of WB in a large pediatric cohort. WB may co-exist with craniosynostosis or other skeletal conditions such as osteogenesis imperfecta. Given the greater prevalence of WB compared to craniosynostosis (2.1%: clinic cohort & 0.57%: institutional cohort vs. 0.05%), clinicians should consider WB in the differential diagnosis of abnormal head shape in infancy, particularly in a subspecialist practice.

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