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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
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Recent Advances in Craniosynostosis.

Elanur Yilmaz1, Ercan Mihci2, Banu Nur2

  • 1Department of Medical Biology and Genetics, Akdeniz University Medical School, Antalya, Turkey.

Pediatric Neurology
|August 19, 2019
PubMed
Summary
This summary is machine-generated.

Craniosynostosis, premature suture fusion, causes developmental issues and is linked to over 200 syndromes. This review explores its complex genetic, epigenetic, and environmental origins for better understanding of craniofacial disorders.

Keywords:
Biological processCraniofacial disordersCraniosynostosisCytogeneticsEpidemiologyEpigeneticsGenetics

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Area of Science:

  • Craniofacial Development and Genetics
  • Developmental Biology
  • Medical Genetics

Background:

  • Craniosynostosis is a congenital disorder defined by the premature fusion of cranial sutures, impacting brain development and leading to severe medical complications.
  • This condition can be syndromic, associated with over 200 syndromes, or nonsyndromic, occurring without additional anomalies.
  • The etiology is complex and multifactorial, involving genetic, epigenetic, and environmental factors.

Purpose of the Study:

  • To review and synthesize current knowledge on the embryologic, genetic, epigenetic, and environmental factors contributing to craniosynostosis.
  • To correlate existing findings and highlight unknown aspects of craniofacial disorder development.
  • To provide a comprehensive overview for understanding this complex pathology.

Main Methods:

  • Review of published embryologic, genetic, epigenetic, and environmental studies on craniosynostosis.
  • Analysis of genetic alterations, epigenetic modifications (e.g., microRNAs), and environmental influences.
  • Correlation of clinical findings with molecular and environmental data.

Main Results:

  • Over 50 nuclear genes associated with craniosynostosis have been identified.
  • Epigenetic factors, such as microRNAs and mechanical forces, play significant roles in suture fusion.
  • Craniosynostosis is a complex, multifactorial disorder requiring integrated analysis of various contributing factors.

Conclusions:

  • Understanding craniosynostosis necessitates a comprehensive approach integrating clinical, genetic, epigenetic, and environmental data.
  • Further research is needed to elucidate the intricate mechanisms underlying craniofacial disorders.
  • This review provides a foundation for future investigations into craniosynostosis etiology and management.