Mutation in fibroblast growth factor receptor 2 (Ser252Trp) was positive. She is clinically stable but moderately depressed as an adult. She had abnormal characteristics of the skull, face, and extremities that were detected at birth. Our patient is a 37-year-old African woman.
Therefore, this case report highlights medical and psychosocial problems associated with the disease in an adult woman who is resident in a resource-constrained setting. Currently, there is paucity of reports about adult patients in African medical literature. Apert syndrome is a rare genetic disease that presents a diagnostic dilemma because of its similarity with other craniosynostosis syndromes.