Apert Syndrome: Radiologist’s Perspective

Abstract

Background: Apert syndrome (acrocephalosyndactyly type 1) is a rare syndrome, well known by severe syndactyly, dysmorphic face and craniosynostosis and is caused by FGF (fibroblast growth factor) receptor-2 gene mutations. Case Report: This is a case report of one year old girl child who presented with syndactyly of bilateral hands and feet, delayed milestones and dysmorphic facial features. Radiograph of the hands and feet of the patient revealed bilateral soft tissue and bony syndactyly, single broadened dysplastic phalanx in both great toes and presence of only two phalanges in 2nd to 5th toes. Non-contrast computed tomography of the head revealed bi-coronal synostosis and a widely open midline calvarial defect extending from posterior fontanelle to the root of the nose with hypoplastic bilateral maxillae. Intra-parenchymal findings including ventriculomegaly, corpus callosum thinning, absent cavum septum pellucidum and enlarged cystic space in posterior fossa were also present. Conclusion: Recognition of characteristic clinical and imaging abnormalities are crucial to radiologists and clinicians in the diagnosis and management of these patients. Since there is multi-system involvement, a multidisciplinary approach is needed in the management of patients.