IJSR International Journal of Scientific Research 2277 - 8179 Indian Society for Health and Advanced Research ijsr-8-2-18194 Original Research Paper CROUZON CRANIOFACIAL DYSOSTOSIS IN TWO SIBLINGS: A RARITY Choudhary Dr. Keya Lahiri Dr. February 2019 8 2 01 02 ABSTRACT

Craniofacial dysostosis is an autosomal dominant condition with a prevalence rate of 15% in one million newborns and 4.8% amongst craniosynostosis. It is caused by the mutation in the Fibroblast growth factor receptor 2 (FGFR–2) gene. We present a case of crouzon syndrome in two siblings aged 6 and 4 years of age. 
The older sibling, born of 3rd degree consanguineous marriage presented with complains of abnormal shape of the head since birth with decreased vision noticed one year back. Both the siblings had cranial and facial dysmorphism. On examination, both were stunted with tall forehead, frontal bossing, proptosis, hypertelorism, depressed nasal bridge, and mandibular prognathism. Ophthalmic evaluation of the elder child was suggestive of strabismus, bilateral optic atrophy with refractory error and shallow orbits. Intraoral examination revealed a high arched palate. Younger sibling showed bilateral chronic papilloedema. Computerized tomography of both patients demonstrated craniosynostosis. MRI orbit of the younger sibling denoted intracranial hypertension secondary to craniosynostosis.