Acta Scientific PAEDIATRICS (ISSN: 2581-883X)

Review Article Volume 5 Issue 10

Molecular Mechanisms, Clinical Approach to Diagnosis and Competent Care of Craniosynostosis

Gayatri Nerakh*

Department of Fetal Medicine and Medical Genetics, Fernandez Foundation, India

*Corresponding Author: Gayatri Nerakh, Department of Fetal Medicine and Medical Genetics, Fernandez Foundation, India.

Received: August 04, 2022; Published: September 29, 2022

Abstract

Craniosynostosis is defined as a partial or complete premature fusion of one or multiple cranial sutures resulting in distortion of skull shape and craniofacial dysmorphism. It is a heterogeneous condition with non-genetic and genetic etiology. The prevalence of craniosynostosis is 1 in 2000 and 1 in 2500 live births and is the second most common craniofacial anomaly after cleft lip/palate. Understanding the pathogenesis of craniosynostosis is very important. Knowledge of perinatal presentation of syndromic and non-syndromic craniosynostosis helps in appropriate genetic evaluation. Neurological abnormalities can be prevented/improved by early diagnosis and treatment for those who require surgical intervention.

Keywords: Clinical Approach; Craniosynostosis; Syndromes

References

  1. Kim HJ., et al. “Craniosynostosis: updates in radiologic diagnosis”. Journal of Korean Neurosurgical Society 3 (2016): 219-226.
  2. Lattanz W., et al. “Genetic advances in craniosynostosis”. American Journal of Medical Genetics Part A 5 (2017): 1406-1429.
  3. Di Rocco F., et al. “Evolution in the frequency of non-syndromic craniosynostosis”. Journal of Neurosurgery: Pediatrics 4 (2009): 21-25.
  4. Wu X., et al. “Signaling Mechanisms Underlying Genetic Pathophysiology of Craniosynostosis”. International Journal of Biological Sciences 2 (2019): 298-311.
  5. Stephen RF., et al. “Genetic-Pathophysiological Framework for Craniosynostosis”. The American Journal of Human Genetics 3 (2015): 359-377.
  6. Bukowska-Olech E., et al. “Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects”. Frontiers in Molecular Biosciences 9 (2022): 865494.
  7. Mefford HC., et al. “Copy Number Variation Analysis in Single-Suture Craniosynostosis: Multiple Rare Variants Including RUNX2Duplication in Two Cousins with Metopic Craniosynostosis’’. American Journal of Medical Genetics 152A.9 (2010): 2203-2210.
  8. Goos JAC., et al. “Genetic Causes of Craniosynostosis: An Update’’. Molecular Syndromology 1-2 (2019): 6-23.
  9. Yılmaz , et al. “Effect of administering kefir on the changes in fecal microbiota and symptoms of inflammatory bowel disease: A randomized controlled trial”. Turkish Journal of Gastroenterology 30.3 (2019): 242-253.
  10. Plakas S., et al. “High risk factors for craniosynostosis during pregnancy: A case-control study”. European Journal of Obstetrics and Gynecology and Reproductive Biology 14 (2022): 100147.
  11. Speltz ML., et al. “Intellectual and academic functioning of school-age children with single-suture craniosynostosis’’. Pediatrics3 (2015): e615-623.
  12. Wolfswinkel, et al. “Postoperative helmet therapy following fronto-orbital advancement and cranial vault remodeling in patients with unilateral coronal synostosis”. American Journal of Medical Genetics Part A 185.9 (2021): 2670-2675.
  13. Haratz KK., et al. “The ‘Brain Shadowing Sign’: A Novel Marker of Fetal Craniosynostosis”. Fetal Diagnosis and Therapy 4 (2016): 277-284.
  14. Harada A., et al. “Prenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods”. Congenital Anomalies (Kyoto) 4 (2019): 132-141.
  15. Rubio EI., et al. “Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes”. Pediatric Radiology 46 (2016): 709-718.
  16. Massimi L., et al. “Imaging in craniosynostosis: when and what?”. Child's Nervous System 35 (2019): 2055-2069.
  17. Montoya JC., et al. “Low-Dose CT for Craniosynostosis: preserving diagnostic benefit with substantial radiation dose reduction”. American Journal of Neuroradiology 4 (2017): 672-677.
  18. Eley KA., et al. "Black Bone" MRI: a novel imaging technique for 3D printing”. Dentomaxillofacial Radiology 3 (2017): 20160407.
  19. Safran T., et al. “The State of Technology in Craniosynostosis”. Journal of Craniofacial Surgery 4 (2018): 904-907.
  20. Sawh-Martinez , et al. “Syndromic Craniosynostosis”. Clinics in Plastic Surgery 46.2 (2019): 141-155.
  21. Tahiri Y., et al. “Evidence-based medicine: Nonsyndromic craniosynostosis”. Plastic and Reconstructive Surgery (2017): 140:177e-191e.
  22. Rottgers SA., et al. “Outcomes of endoscopic suturectomy with postoperative helmet therapy in bilateral coronal craniosynostosis”. Journal of Neurosurgery: Pediatrics 3 (2016): 281-286.
  23. Di Rocco F., et al. “Sagittal suture craniosynostosis or craniosynostoses? The heterogeneity of the most common premature fusion of the cranial sutures”. Neurochirurgie5 (2019): 232-238.
  24. Yu M., et al. “Cranial Suture Regeneration Mitigates Skull and Neurocognitive Defects in Craniosynostosis”. Cell 1 (2021): 243-256.e18.

Citation

Citation: Gayatri Nerakh. “Molecular Mechanisms, Clinical Approach to Diagnosis and Competent Care of Craniosynostosis". Acta Scientific Paediatrics 5.10 (2022): 19-26.

Copyright

Copyright: © 2022 Gayatri Nerakh. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.




Metrics

Acceptance rate33%
Acceptance to publication20-30 days
Impact Factor1.197

Indexed In




News and Events


  • Certification for Review
    Acta Scientific certifies the Editors/reviewers for their review done towards the assigned articles of the respective journals.
  • Submission Timeline for Upcoming Issue
    The last date for submission of articles for regular Issues is December 15, 2022.
  • Publication Certificate
    Authors will be issued a "Publication Certificate" as a mark of appreciation for publishing their work.
  • Best Article of the Issue
    The Editors will elect one Best Article after each issue release. The authors of this article will be provided with a certificate of “Best Article of the Issue”.
  • Welcoming Article Submission
    Acta Scientific delightfully welcomes active researchers for submission of articles towards the upcoming issue of respective journals.
  • Contact US