Work

Unilateral craniosynostosis associated with ZIC1 gene mutation: a case report

Year: 2025

Type: article

Abstract: Craniosynostosis is one of the most common craniofacial anomalies, resulting from premature fusion of one or more cranial sutures. While most cases are sporadic, a significant number have a genetic etiology, including monogenic mutations. Coronal synostosis, in particular, is frequently associated with genetic variants. Mutations in the zinc finger protein of cerebellum 1 (ZIC1) gene have recently been recognized as a rare cause of coronal craniosynostosis. We report an 11-month-old female infant with a ZIC1 mutation presenting with unilateral left coronal craniosynostosis, microcephaly, and multiple neurodevelopmental and systemic comorbidities. Due to progressive deformity and concerns of raised intracranial pressure, anterior cranial vault expansion with fronto-orbital advancement was performed, resulting in immediate cosmetic improvement. The postoperative course was uneventful, and developmental progress was noted on follow-up. This case illustrates an uncommon presentation within the ZIC1 associated craniosynostosis spectrum and highlights the importance of considering ZIC1 mutations in unexplained unilateral coronal cases, guiding genetic counseling, and surveillance.

Source: Journal of Surgical Case Reports

DOI: 10.1093/jscr/rjaf1065

Authors: Fahad K Alsharef, Khulood K Alraddadi, Tariq Aljared

Institutions: King Saud bin Abdulaziz University for Health Sciences, National Guard Health Affairs

Language: English

Topic: Craniofacial Disorders and Treatments

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,000