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Craniosynostosis: current conceptions and misconceptions

1 Finnell Birth Defects Research Laboratory, Dell Pediatric Research Institute, The University of Texas at Austin, USA
2 Department of Nutritional Sciences, Dell Pediatric Research Institute, The University of Texas at Austin, USA
3 Pediatric Neurosurgery, Dell Children’s Medical Center, Professor, Department of Surgery, Dell Medical School, Austin, TX, USA
4 Plastic Surgery, Craniofacial Team at the Dell Children’s Medical Center of Central Texas, Austin, USA

Topical Section: Craniofacial Development and Anomalies

Cranial bones articulate in areas called sutures that must remain patent until skull growth is complete. Craniosynostosis is the condition that results from premature closure of one or more of the cranial vault sutures, generating facial deformities and more importantly, skull growth restrictions with the ability to severely affect brain growth. Typically, craniosynostosis can be expressed as an isolated event, or as part of syndromic phenotypes. Multiple signaling mechanisms interact during developmental stages to ensure proper and timely suture fusion. Clinical outcome is often a product of craniosynostosis subtypes, number of affected sutures and timing of premature suture fusion. The present work aimed to review the different aspects involved in the establishment of craniosynostosis, providing a close view of the cellular, molecular and genetic background of these malformations.
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Keywords craniosynostosis; suture; cranial vault; intramembranous ossification; syndrome; MSX; FGFR; FGF; BMP; TWIST

Citation: Cristiane Sá Roriz Fonteles, Richard H. Finnell, Timothy M. George, Raymond J. Harshbarger. Craniosynostosis: current conceptions and misconceptions. AIMS Genetics, 2016, 3(1): 99-129. doi: 10.3934/genet.2016.1.99


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