Apert's syndrome: Report of a rare case

J Oral Maxillofac Pathol. 2013 May;17(2):294-7. doi: 10.4103/0973-029X.119782.

Abstract

Apert's syndrome (AS), a form of acrocephalosyndactyly, is a rare congenital disorder with autosomal dominant mode of transmission; characterized by craniosynostosis, midface hypoplasia, and syndactyly of hands and feet. The rarity of the syndrome and similarity of features with other craniosynostosis syndromes makes it a diagnostic dilemma. Genetic counseling and early intervention form an essential part of treatment. Because of the paucity of reported cases in Indian literature and typical features in oral cavity, a dentist should be competent to diagnose and form a part of the multidisciplinary management team. Here, we report a case of a 14-year-old boy with AS.

Keywords: Apert's syndrome; craniosynostosis; syndactyly.

Publication types

  • Case Reports