Apert syndrome: clinical and radiographic features and case report

Authors

  • Felipe Paes Varoli Paulista University
  • Karina Cecília Panelli Santos USP
  • Cláudio Costa USP
  • Jefferson Xavier Oliveira USP

Keywords:

Apert syndrome, acrocephalosyndactylia, craniosynostosis

Abstract

Purpose: Apert syndrome is a rare type I acrocephalosyndactyly syndrome characterized by craniosynostosis, severe syndactyly of the hands and feet, and dysmorphic facial features. Presents autosomal dominant inheritance assigned to mutations in the fibroblast growth factor receptors gene. The oral cavity of Apert patients includes a reduction in the size of the maxilla, tooth crowding, anterior open-bite of the maxilla, impacted teeth, delayed eruption, ectopic eruption, supernumerary teeth, and thick gingiva. The mandible usually is within normal size and shape, and simulates a pseudoprognathism. Case description: A female patient, 13 years old, with diagnosis of Apert syndrome, attended a dental radiology clinic. The clinical signs were occular anomalies, dysmorphic facial features, syndactyly and oral features observed clinically and radiographically. The patient was referred to a specialized center of clinical care for patients with special needs. Conclusion: Because of the multiple alterations in patients with Apert syndrome, a multidisciplinary approach, including dentists and neurosurgeons, plastic surgeons, ophthalmologists and geneticists, is essential for a successful planning and treatment.

Author Biographies

Felipe Paes Varoli, Paulista University

Paulista University. São Paulo, SP- Brazil

Karina Cecília Panelli Santos, USP

Faculty of Odontology of São Paulo University. São Paulo, SP- Brazil

Cláudio Costa, USP

PHD. Associate Professor Faculty of Odontology of São Paulo University. São Paulo, SP- Brazil

Jefferson Xavier Oliveira, USP

PHD. Associate Professor Faculty of Odontology of São Paulo University. São Paulo, SP- Brazil

Downloads

Published

2011-02-14

Issue

Section

Case Report