Crouzon syndrome - A rare case report

Vidhya Kalanjiam, G.V. Murali Gopika Manoharan

Abstract


Crouzon syndrome is the most common syndrome among the craniosynostosis group. Crouzon syndrome accounts for about 4.8% of all of them. It commonly has autosomal dominant inheritance with complete penetrance and variable expressivity from subtle to severe forms and characterized by craniosynostosis, exophthalmos, and hypoplastic maxilla with relative mandibular prognathism. Mutation of the fibroblast growth factor receptor-2 gene is responsible for the occurrence of this rare genetic disorder. Our paper reports the diagnosis of this rare syndrome in a young female patient based on clinical and radiographical features. Prompt and timely management of the syndrome has enabled this patient to lead a normal life despite the syndrome.


Keywords


Craniofacial dysostosis, craniosynostosis, crouzon syndrome, exophthalmos

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International Journal of Health Sciences Journal (ISSN 1658-3639) a leading international journal in medical sciences Published by Qassim University, Kingdom of Saudi Arabia