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

Abstract

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.

Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2+P253R mice

“…In a few cases of patients with Apert syndrome, the nasal and cranial base lengths were also noted to be reduced in radiographs, but their mutations were not analyzed [44]. These results indicate that each mutation has differential effects on certain anatomical structures resulting in varying localized phenotypic differences between the two mouse mutants rather than one mutation causing generally more severe phenotypes.…”

Clinical Applications of Rapid Prototyping Models in Cranio-Maxillofacial Surgery

“…The main risks during this type of osteotomy are linked to the initial wrong three-dimensional orientation of the osteotome in relation to the patient's anatomy. The anatomy of a craniosynostotic syndromic patient could also be misleading for initial orientation of the osteotom (Sannomiya et al, 2006). An osteotomy performed in too anterior and/or too lateral a direction could result in a bad split of the midline during the down-fracture with Rowe forceps.…”

“…Custommade cranioplasty implants are associated with the advantages of reduced operative time, less invasive surgery, improved cosmetic results, faster recuperation, and reduced costs due to short operative times (Rotaru et al, 2006). SLS models have also allowed for the analysis of abnormalities regarding calvaria morphology, nasal bones and maxilla, improving the criteria for diagnosis and the surgical plan in a case of craniofacial dysostosis (Apert syndrome) (da Rosa et al, 2004;Sannomiya et al, 2006).…”

Adjunctive use of medical modeling for head and neck reconstruction

“…The idea that unilateral maxillomandibular distortion could be virtually corrected by overlaying the mirror image of the contralateral side was developed in the mid-1980s and subsequently adapted to stereolithographic modeling by numerous authors [19,26,47,68,76,[80][81][82][83][84][85]. An example is shown in Fig.…”