Apert′s Syndrome: A Rare Case Report

Abstract

Apert′s syndrome /Acrocephalosyndactyly is a rare, congenital disorder characterized by craniosynostosis, midfacial malformations and symmetrical syndactyly. It is caused by a genetic mutation in the FGFR2 gene on chromosome 10. Although the syndrome has typical clinical features, the relative rarity of the condition still poses a diagnostic dilemma. Considering the general paucity of cases in the Indian literature, we present a case report of a 14-year-old female having all the features of classical Apert′s syndrome.

Keywords

• Craniosynostosis
• Syndactyly
• Apert′s syndrome