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International Journal of Advances In Case Reports

Volume 11, Issue 1, 2024
Mcmed International
International Journal of Advances In Case Reports
Issn
XXX-XXXX (Print), 2349 - 8005 (Online)
Frequency
bi-annual
Email
editorijacr@mcmed.us
Journal Home page
http://mcmed.us/about/ijacr
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Abstract
Title
CROUZON SYNDROME - A RARE GENETIC DISORDER. A CASE REPORT AND A DETAILED REVIEW OF LITERATURE
Author
Saraswathi Gopal K* & M.Amala
Email
amaladoc@gmail.com
keyword
Crouzon Syndrome; Rare Case; Premature Synostosis, Mutation
Abstract
Crouzon’s syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon’s syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. Normally, the sutures in the human skull fuse after the complete growth of the brain, but if any of these sutures close early then it may interfere with the growth of the brain. The disease is characterized by premature synostosis of coronal and sagittal sutures which begins in the first year of life. Here is a Case report of a 6 year old boy is presented with characteristic features of Crouzon’s syndrome clinically and radiographically.
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