Unilateral craniosynostosis associated with ZIC1 gene mutation: a case report

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.