Clinical and radiographic presentation and preparation of the prototyping model for pre-surgical planning in Apert's syndrome

Acrocephalosyndactyly, or Apert's syndrome, described nearly a century ago, is a craniofacial dysostosis, an autosomal dominant condition characterized by severe development disturbances of the craniofacial region including bilateral coronal synostosis associated with midface hypoplasia, exophthalmia, hypertelorism, symmetric syndactyly of the hands and feet, cone-shaped calvarium, pharyngeal attenuation and malocclusion. The aim of this study was to assess clinical and computed tomography (CT) imaging patterns of a non-operated patient with Apert's syndrome, correlating the cranium, face and the skull base bone abnormalities. Three-dimensional images were generated from spiral CT scans in order to produce a prototyping model in polyamide material. Clinical examination determined that syndactyly of the hands and feet, pseudocleft in the midline palate and midface hypoplasia were present. The surgical model allowed the analysis of some abnormalities regarding to calvaria morphology, nasal bones and maxilla, improving the criteria for a case diagnosis and surgical plan.