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Craniosynostosis is the premature fusion of one or more cranial sutures in infants, preventing normal skull growth and potentially causing increased intracranial pressure. This condition affects approximately 1 in 2,000-2,500 births and can be either isolated (non-syndromic) or part of a genetic syndrome. Early recognition and surgical intervention are crucial to prevent developmental complications and allow for proper brain growth.
Normal skull growth occurs through the gradual ossification of fibrous sutures between cranial bones, allowing accommodation of the rapidly growing brain during infancy. In craniosynostosis, premature suture fusion restricts growth perpendicular to the affected suture while compensatory growth occurs in other directions, leading to characteristic skull deformities. The underlying cause involves disrupted bone and suture development, often due to genetic mutations affecting bone morphogenetic proteins, transcription factors, or growth factor receptors.
Diagnosis relies on recognizing abnormal head shapes specific to each affected suture: scaphocephaly (sagittal), trigonocephaly (metopic), plagiocephaly (coronal), or brachycephaly (bilateral coronal). Clinical assessment includes measuring head circumference, palpating for ridge formation over fused sutures, and evaluating for signs of increased intracranial pressure such as bulging fontanelles or developmental delays. CT imaging confirms suture fusion and helps with surgical planning, while genetic evaluation is indicated when syndromic features are present or multiple sutures are involved.