Article Per Year (5 Year)
p-Index From 2021 - 2026
0
P-Index
This Author published in this journals
All Journal Indian Journal of Forensic Medicine & Toxicology
D.Angel Fastina Mary
Unknown Affiliation
Public Health

Published : 1 Documents Claim Missing Document
Claim Missing Document
Check
Articles

Found 1 Documents
Search

 1 
Novel Gene Mutations Associated with Crouzon Syndrome D.Angel Fastina Mary
Indian Journal of Forensic Medicine & Toxicology Vol. 14 No. 4 (2020): Indian Journal of Forensic Medicine & Toxicology
Publisher : Institute of Medico-legal Publications Pvt Ltd

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37506/ijfmt.v14i4.12554

Abstract

Crouzon syndrome exhibits consideration of phenotypic heterogeneity, within the aetiology of whichgenetics play a crucial role. The FGFR2 gene mediates extracellular signals into cells and mutations withinthe FGFR2 gene cause Crouzon syndrome. The review summarizes the genetic phenotype study and geneticevaluation related to Crouzon syndrome (CS) which frequently determines the degree of complexity, guidemanagement, guidance and intervention related to this craniofacial defect. CS is a disorder characterizedby early fusion of certain skull bones (craniosynostosis). This prevents normal growth of the skull, whichmay affect the form of the top and face. Signs and symptoms of Crouzon syndrome may include wide-set,bulging eyes; strabismus (misalignment of the eyes); “beak-shaped” nose; and an underdeveloped upperjawbone. Other features may include dental problems, deafness, and/or harelip and palate. The severity ofsigns and symptoms can vary among affected people, even within a family. Intelligence is typically normal,but intellectual disability could also be present. Crouzon syndrome is caused by changes (mutations) withinthe FGFR2 gene and is inherited in an autosomal dominant manner. Treatment may involve surgeries to stopcomplications, improve function, and aid in healthy psychosocial development.
Co-Authors