Apert’s Disease: Three Case Reports and Review of the Literature

Abstract

Apert's disease is an acrocephalosyndactyly, which is part of the craniofaciostenosis group. It is characterized by craniofacial dysmorphia and syndactyly of the hands and feet. It is a rare autosomal dominant condition, but sporadic cases are common. The pathogenesis is poorly understood. It is due to premature welding of the coronal sutures. Presently described are cases of three infants diagnosed with Apert syndrome based on symptomatic association with the help of medical imaging. Alpert syndrome requires treatment by a multidisciplinary team. The priority of treatment is to combat brain compression in children and to manage cardiorespiratory problems. Facial anomalies most often require several surgical interventions at different ages of life.