CASE REPORT
Year : 2013  |  Volume : 6  |  Issue : 3  |  Page : 321-323

Crouzon syndrome


1 Department of Ophthalmology, Padmashree, Dr D Y Patil Medical College, Hospital and Research Centre, Dr D Y Patil Vidyapeeth, Pune, India
2 Department of Ophthalmology, Goa Medical College and Hospital, Goa, India

Correspondence Address:
Neha Rajappa
1101, A-Wing, Monarch, Ashar Residency, Pokhran Road - 2, Thane - 400 607, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0975-2870.114675

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Crouzon 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 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. A case of Crouzon syndrome is presented here. The clinical and characteristic radiological features and the investigations that were carried out, along with the treatment options are discussed.


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