A Case Report of Oral Findings in a Patient with Apert Syndrome

Abstract

Background: Apert syndrome, also called acrocephalosyndactyly, is a very rare genetic condition. It is characterized by craniosynostosis, midface hypoplasia and syndactyly with an autosomal dominant inheritance in most cases. Apert syndrome constitutes 4.5% of all cases of craniosynostosis, and it occurs in every 1 in 65,000 live births

Objective: To report a case of Apert syndrome in an 18-year-old with characteristic facial and oral features

Case presentation: An 18-year-old male with Apert syndrome presented with the characteristic craniofacial and oral features: Acrocephalic skull, exophthalmos, hypertelorism, downward slant of the palpebral fissures, depressed nasal bridge, syndactyly, retruded maxilla, prognathic mandible, bow-shaped lips, pseudocleft and malocclusion.

Conclusion: A multidisciplinary team of healthcare professionals should be involved in giving early diagnosis, early surgical intervention and comprehensive rehabilitation to improve the quality of life of patients with Apert syndrome.