ePrints

Crouzon syndrome: Genetic and intervention review

Lookup NU author(s): Dr Nisreen Al-NamnamORCiD

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.

Abstract

Crouzon syndrome exhibits considerable phenotypic heterogeneity, in the etiology of which genetics play an important role. FGFR2 mediates extracellular signals into cells and the mutations in the FGFR2 gene cause this syndrome occurrence. Activated FGFs/FGFR2 signaling disrupts the balance of differentiation, cell proliferation, and apoptosis via its downstream signal pathways. However, very little is known about the cellular and molecular factors leading to the severity of this phenotype. Revealing the molecular pathology of craniosynostosis will be of great value for genetic counseling, diagnosis, prognosis, and early intervention programs. This mini-review summarizes the fundamental and recent scientific literature on the genetic disorder of Crouzon syndrome and presents a graduated strategy for the genetic approach, diagnosis and management of this complex craniofacial defect.

Publication metadata

Author(s): Al-Namnam NM, Hariri F, Thong MK, Rahman ZA

Publication type: Article

Publication status: Published

Journal: Journal of Oral Biology and Craniofacial Research

Year: 2019

Volume: 9

Issue: 1

Pages: 37-39

Online publication date: 01/01/2019

Acceptance date: 15/08/2018

ISSN (electronic): 2212-4268

Publisher: Elsevier

URL: https://doi.org/10.1016/j.jobcr.2018.08.007

DOI: 10.1016/j.jobcr.2018.08.007

Altmetrics

Share