Crouzon Syndrome: A Case Report

International Journal of Research in Health Sciences,2015,3,3,400-402.
Published:July 2015
Type:Case Report
Authors:
Author(s) affiliations:

Malleswari D1, Rama Kishore AV 2

1-Associate Professor, 2-Assistant Professor, Department of Pediatrics, Government Medical college, Anantapuramu. A.P, INDIA.

Abstract:

Crouzon's syndrome is an autosomal dominant genetic disorder with complete penetrance and variable expressivity. Crouzon's syndrome is a rare genetic disorder which is a resultant of mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. The syndrome manifests with earlier closer of skull sutures and tamper the normal growth of the brain. The syndrome usually results in premature synostosis of coronal and sagittal sutures which begins in the first year of life and the subjects are likely to suffer with mental retardation. The current case is about a 5 year old case of Crouzon’s syndrome without mental retardation.

Plain X-ray of skull (A.P and Lat view): Silver beaten appearance