Crouzon syndrome: Genetic and intervention review

N.M. Al-Namnam, F. Hariri, M.K. Thong, Z.A. Rahman

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

Crouzon syndrome exhibits considerable phenotypic heterogeneity, in the aetiology 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 severity of this phenotype. Revealing the molecular pathology of craniosynostosis will be a great value for genetic counselling, diagnosis, prognosis and early intervention programs. This mini-review summarizes the fundamental and recent scientific literature on genetic disorder of Crouzon syndrome and presents a graduated strategy for the genetic approach, diagnosis and the management of this complex craniofacial defect.
Original languageEnglish
Pages (from-to)37-39
JournalJournal of Oral Biology and Craniofacial Research
Volume9
Issue number1
Early online date29 Aug 2018
DOIs
Publication statusPublished - 2019

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