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Update in Management of Craniosynostosis | Journal ...
Journal CME Article: Update in Management of Crani ...
Journal CME Article: Update in Management of Craniosynostosis Article
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The article discusses the condition of craniosynostosis, a congenital disorder characterized by the premature fusion of one or more cranial sutures, leading to abnormal head shapes and restricted brain growth. The incidence is approximately one in 2,500 births, with most cases being nonsyndromic and affecting single sutures. Sagittal and unicoronal synostoses display gender predispositions towards males and females, respectively.<br /><br />Despite advancements in genetic sequencing, identifying exact causes of craniosynostosis remains challenging, though some genetic mutations, such as in the BBS9 and FREM1 genes, have been associated with certain types. In syndromic cases, mutations in fibroblast growth factor receptor genes (FGFR1, FGFR2, and FGFR3) are common, with various syndromes linked to these mutations, such as Apert and Crouzon syndromes.<br /><br />A multidisciplinary approach is essential for preoperative assessment, involving specialists from craniofacial surgery to genetics. The management plan tailors surgical intervention timing and technique based on the specific type of synostosis, with early surgery favored for less severe deformities to capitalize on rapid brain growth.<br /><br />Diagnostic imaging, typically using CT scans, confirms diagnosis and surgical planning. Recent advancements include the use of low-radiation techniques and alternative imaging methods like "black bone" MRI, though traditional methods like CT remain prevalent due to availability.<br /><br />Surgical techniques for craniosynostosis vary, such as endoscopic surgery for early cases or more invasive open cranial vault remodeling for comprehensive reshaping. The article emphasizes the need for potential volume expansion in cases with intracranial hypertension, especially in syndromic synostoses.<br /><br />Long-term management may involve multiple surgeries, especially for syndromic cases, to address both cranial deformations and associated functional impairments. Overall, the condition's complexity necessitates ongoing multidisciplinary care and innovation in surgical methods.
Keywords
craniosynostosis
congenital disorder
cranial sutures
genetic mutations
syndromic cases
multidisciplinary approach
diagnostic imaging
surgical techniques
intracranial hypertension
long-term management
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