Apert’s syndrome

case report

Abstract

Apert syndrome is a rare autosomal dominant disease, associated with mutations in the FGFR2 gene. Clinically, it is characterized by craniosynostosis and syndactyly. Other anomalies include ocular proptosis, downward slanting palpebral fissures, narrow nose, visceral, elbows, shoulders, skeleton and CNS anomalies, the latter usually results in mental retardation. Given that, both the limb and craniofacial deformities could cause patients to suffer limitations in their socialization and have their opportunities reduced, including classroom learning if there is not a multidisciplinary team action, as soon as they detect the disease, this paper aimed to report a case of Apert Syndrome diagnosed at birth and discuss it in light of the published medical literature to date.