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Case Study
Crouzon Syndrome: A Case Report

G. Pournima, Y. Monica and S. Meghna

European Journal of Dentistry and Medicine, 2012, 4(1), 8-13.


Craniosynostosis are heterogenous group of syndromes characterized by premature sutural fusion that occurs individually or relating to other anamolies. The type of the obliterated sutures determines the type of craniosteinosis. There are over 150 syndromes associated with it. Crouzon syndrome is an example of such a syndrome caused by premature obliteration and ossification of two or more sutures, most commonly coronal and sagittal. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon syndrome is caused by mutation in the Fibroblast Growth Factor Receptor 2 (FGFR2) gene. This disorder is characterized by distinctive malformations of skull and face (craniofacial region). Premature cranial suture closure is the most common skull abnormality. The case of a 7-year-old Indian boy with Crouzon Syndrome which is one of syndromes associated with synostosis, is presented. He presented with a cranial deformity, maxillary hypoplasia and exophthalmos. The clinical, characteristic radiological features and investigations carried out, along with treatment of this patient are discussed as part of multidisciplinary management.

ASCI-ID: 65-11

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