A case of Crouzon syndrome with papilloedema and exotropia

Abstract

Early fusion of skull bones is the root cause of craniosynostosis. Nonsyndromic craniosynostosis affect only one suture of the skull while syndromic craniosynostosis affects multiple sutures and are associated with craniofacial dysmorphisms also abnormalities of extremities and other bony anomalies. 90% of cases are attributed to fibroblast growth factor gene 2 on chromosome 10p 25-q26, is responsible for more than. Crouzon syndrome is an autosomal dominant cause that constitutes 4.5% of craniosynostosis patients incidence of which is 0.16/10,000 population worldwide, most commonly involving coronal and frontosphenoidal suture. There is increased antero-posterior diameter of skull, hypoplasia of maxilla, and shallow orbits. Other features being brachycephaly, mid-face hypoplasia, and wider skull base anteriorly causing hypertelorism. Compensatory growth of uninvolved structure causes frontal bossing. Hydrocephalus, parrot beak-nose, hypoplasia of the maxilla, and high-arched palate is also noted. Relative proptosis is seen in most of the cases due to orbital hypoplasia. Ocular findings include vision impairment, strabismus, glaucoma, nystagmus, occasionally, corneal size abnormalities, keratoconus, corectopia, or aniridia. This case report is unique as it describes a 12 year old female of crouzon syndrome which presented with papilloedema and divergent squint which is rearely associated with this syndrome.