J Korean Neurosurg Soc.  2016 May;59(3):214-218. 10.3340/jkns.2016.59.3.214.

Update of Diagnostic Evaluation of Craniosynostosis with a Focus on Pediatric Systematic Evaluation and Genetic Studies

• Hwang SK
• Park KS
• Park SH
• Hwang SK

• KMID: 2192089
• DOI: http://doi.org/10.3340/jkns.2016.59.3.214

Abstract

Most craniosynostoses are sporadic, but may have an underlying genetic basis. Secondary and syndromic craniosynostosis accompanies various systemic diseases or associated anomalies. Early detection of an associated disease may facilitate the interdisciplinary management of patients and improve outcomes. For that reason, systematic evaluation of craniosynostosis is mandatory. The authors reviewed systematic evaluation of craniosynostosis with an emphasis on genetic analysis.

Keyword

Craniosynostosis; Diagnosis; Genetic

MeSH Terms

Craniosynostoses*
Diagnosis
Humans