Crouzon syndrome is one of the most common craniosynostosis facial syndromes caused by a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. Less commonly, there is a mutation of the FGFR3 gene which results in Crouzon syndrome syndrome with acanthosis nigricans. It involves the premature fusion of sutures of the cranial vault, base, orbital and maxillary region. The clinical presentation of this congenital deformity depends on the pattern and timing of sutural fusion. The present report describes the features and management of this syndrome in an 18-year-old woman. The patient presented with a hypoplastic maxilla, deficient midface, exorbitism due to shallow orbits, severe crowding and bilateral crossbite. A multidisciplinary approach involving orthodontics and surgical intervention with distraction osteogenesis brought about marked improvement in the facial profile, occlusion and upper airway. The aesthetics and function were greatly enhanced, and the results were found to be stable at the end of three years.
Keywords: Crouzon syndrome; craniofacial synostosis; maxillary distraction osteogenesis; midfacial distraction osteogenesis.