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Journal of Pediatric Neuroradiology 2016; 05(03): 150-163
DOI: 10.1055/s-0036-1593421
Review Article
Georg Thieme Verlag KG Stuttgart • New York

Craniosynostosis Syndromes: Genetics to Imaging

Mai-Lan Ho
1   Division of Neuroradiology, Mayo Clinic, Rochester, Minnesota, United States
,
Samir Mardini
2   Department of Surgery, Mayo Clinic, Rochester, Minnesota, United States
,
Nicholas M. Wetjen
3   Department of Neurosurgery, Mayo Clinic, Rochester, Minnesota, United States
› Author Affiliations
Further Information

Publication History

Publication Date:
03 October 2016 (online)

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Abstract

Craniosynostosis is seen in 1 of every 2,000 births, with associated craniofacial deformities that produce significant anatomic and functional impairment. In isolated craniosynostosis, the classic clinical appearances and surgical approaches are well established. However, syndromic craniosynostosis presents with compound anatomic malformations and multisystem involvement, greatly complicating diagnosis and therapy. In such cases, imaging and genomic analysis can assist greatly in preoperative diagnosis and follow-up. This article will review the current literature on radiologic manifestations and genetic etiologies of major craniosynostosis syndromes.

Keywords

craniofacial - craniosynostosis - face - jaw - syndrome
 

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