Crouzon's Syndrome: A Case Report

Crouzon's syndrome (CS) is a rare autosomal dominant condition with multiple mutations of the fibroblast growth factor receptor (FGFR2) gene, which accounts for 4.8% of all cases of craniosynostosis. It is characterized by premature closure of cranial sutures, cranial deformities, midface hypop...

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Bibliographic Details
Main Authors: Kumar, G Ravi, Jyothsna, M, Ahmed, Syed Basheer, Lakshmi, K Sree
Format: Online
Language:English
Published: Jaypee Brothers Medical Publishers 2013
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4034637/
Description
Summary:Crouzon's syndrome (CS) is a rare autosomal dominant condition with multiple mutations of the fibroblast growth factor receptor (FGFR2) gene, which accounts for 4.8% of all cases of craniosynostosis. It is characterized by premature closure of cranial sutures, cranial deformities, midface hypoplasia, relative mandibular prognathism, hypertelorism, proptosis, strabismus and short upper lip, crowding of teeth, pseudocleft or sometimes cleft palate and other associated abnormalities. The CS can vary in severity from mild presentation to severe forms involving multiple cranial sutures. We report a case of CS in 11-year-old boy.