The virtual patient in dental medicine

OBJECTIVES The aim of this Short Communication was to present a workflow for the superimposition of intraoral scan (IOS), cone-beam computed tomography (CBCT), and extraoral face scan (EOS) creating a 3D virtual dental patient. MATERIAL AND METHODS As a proof-of-principle, full arch IOS, preoperative CBCT, and mimic EOS were taken and superimposed to a unique 3D data pool. The connecting link between the different files was to detect existing teeth as constant landmarks in all three data sets. RESULTS This novel application technique successfully demonstrated the feasibility of building a craniofacial virtual model by image fusion of IOS, CBCT, and EOS under 3D static conditions. CONCLUSIONS The presented application is the first approach that realized the fusion of intraoral and facial surfaces combined with skeletal anatomy imaging. This novel 3D superimposition technique allowed the simulation of treatment planning, the exploration of the patients' expectations, and the implementation as an effective communication tool. The next step will be the development of a real-time 4D virtual patient in motion.

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Oral-facial-digital type VI syndrome (OFDVI) is a rare phenotype of Joubert syndrome (JS). Recently, C5orf42 was suggested as the major OFDVI gene, being mutated in 9 of 11 families (82 %). We sequenced C5orf42 in 313 JS probands and identified mutations in 28 (8.9 %), most with a phenotype of pure JS. Only 2 out of 17 OFDVI patients (11.7 %) were mutated. A comparison of mutated vs. non-mutated OFDVI patients showed that preaxial and mesoaxial polydactyly, hypothalamic hamartoma and other congenital defects may predict C5orf42 mutations, while tongue hamartomas are more common in negative patients.