Apert syndrome: case report in Honduras

Abstract

Apert syndrome, or type I acrocephalosyndactyly, is characterized by craniosynostosis, symmetrical syndactyly in hands and feet, midface malformations, and variable intellectual disability, resulting from mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. Its incidence is 1-2 per 100,000 live births. Complications and mortality are related to the airway and midface hypoplasia. In Honduras, specific epidemiological data are lacking. We report the case of a male newborn born at 36 weeks of gestation with classic features of the syndrome, including craniosynostosis, midface malformations, and syndactyly in hands and feet.