Crouzons Syndrome: A Review of Literature and Case Report
Journal Title: Pediatric Education and Research - Year 2017, Vol 5, Issue 1
Abstract
Crouzon syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity [1]. In 1912 a French neurologist, Octave Crouzon (1874-1938) first described a hereditary syndrome of craniofacial dysostosis in a mother and her daughter which included a triad-cranial deformities, facial anomalies and exophthalmos [2]. The genetic defect appears to emanate from the mutation of fibroblast growth factor receptor 2 (FGFR2) on chromosome locus 10q25-q26, resulting in early fusion of skull bones during fetal development. Crouzon syndrome, also called craniofacial dysostosis characterized midfacial hypoplasia and orbital defects. It accounts for 4.8% of all cases of craniosynostosis [3]. 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. . Mental retardation is not a hallmark feature unless premature closure of the cranial suture lines impairs brain development [4]. The disease is characterized by premature synostosis of coronal and sagittal sutures which begins in the first year of life. Case report of a 7 year old boy is presented with characteristic features of Crouzon’s syndrome with mental retardation. Keywords: Crouzon’s Syndrome; Fibroblast Growth Factor; Premature Synostosis; Hypertelorism; Exophthalmos; Midfacial Hypoplasia.
Authors and Affiliations
Liza Bulsara
Keywords
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- EP ID EP474104
- DOI 10.21088/per.2321.1644.5117.7
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