Shrey Raj Singh, Mriganka Kumar Phukan, Mousumi Goswami and Sugandh Sareen
Craniosynostosis is the premature fusion of one or more cranial sutures, leading to abnormal skull shape and restricted brain growth. It may occur as an isolated defect or as part of syndromic conditions, including Apert, Crouzon, Carpenter, and Pfeiffer syndromes. Syndromic forms often present with characteristic facial anomalies, limb malformations, and a higher risk of neurodevelopmental impairment. For example, Apert syndrome is associated with syndactyly and midface hypoplasia, while Crouzon syndrome typically features proptosis and maxillary hypoplasia. Carpenter syndrome includes polydactyly and obesity, and Pfeiffer syndrome manifests with broad thumbs. Untreated craniosynostosis can result in elevated intracranial pressure, visual disturbances, respiratory compromise, and psychological challenges. Early diagnosis, often requiring multidisciplinary evaluation, is essential for optimizing outcomes. Surgical intervention, careful perioperative management, and long-term follow-up play a vital role in preventing complications and supporting cognitive development in affected children.
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