Genetic alterations in syndromes with oral manifestations
A male patient aged 23 years, reported to our college with the chief complaint of halitosis. On examination, he had striking clinical features such as exophthalmos, hypertelorism, strabismus [], depressed nasal bridge, hypoplastic maxilla, relative mandibular prognathism, short upper lip []. Intraorally, high arched palate was present []. These features showed complete manifestations of Crouzon syndrome. The phenotypic manifestation was correlated with the genotypes collected from the literature. The candidate gene mutation was fibroblast growth factor receptor 2 (FGFR2) with the loci of 10q26.