Apert syndrome: A case report

Abstract

Apert syndrome is a rare congenital type I acrocephalosyndanctyly syndrome, characterized by craniosynostosis, severe syndactyly of the hands and feet, symphalangism and dysmorphic facial features. Here we reported one case of Apert syndrome and reviewed the literature. This patient presented with the clinical triad that characterized Apert syndrome: brachycephalic skull, midface hypoplasia and syndactyly of feet. Bayley infantile development scale manifested low intellectual score in this case. Rehabilitation therapies such as physical therapy, occupational therapy and speech therapy were introduced to promote the development of motor and intelligence. One and half years follow-up showed that the patient could walk independently without abnormal gait, and the intellectual condition was improved. The aim is to alert pediatricians and surgeons about the early diagnosis and appropriate treatment may improve the quality of life and the prognosis of Apert syndrome.