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Unilateral craniosynostosis associated with ZIC1 gene mutation: a case report
Fahad K Alsharef1, Khulood K Alraddadi2, Tariq Aljared1,2
1College of Medicine, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Sheikh Jaber Al-Sabah Road, Khashm Al An District, PO Box 3660, Riyadh 11481, Riyadh Province, Saudi Arabia.
A rare zinc finger protein of cerebellum 1 (ZIC1) gene mutation caused unilateral coronal craniosynostosis in an infant. Early surgical intervention improved cosmetic outcomes and developmental progress, underscoring the importance of genetic testing.
Area of Science:
- Genetics
- Pediatric Surgery
- Neurodevelopmental Disorders
Background:
- Craniosynostosis is a common craniofacial anomaly due to premature suture fusion.
- Genetic factors, including monogenic mutations, underlie a significant proportion of cases.
- Unilateral coronal synostosis is frequently linked to genetic variants, with ZIC1 mutations being a recently identified rare cause.
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