Pallister–Killian syndrome: clinical and oral findings

Abstract Introduction: Pallister-Killian Syndrome is a sporadic and rare developmental disorder with an incidence of 1/25000 live births which presents multisystem involvement and caused by the presence of a supernumerary isochromosome 12p–i(12)(p10) that determines 12p tetrasomy, with a mosaic distribution in different cell lines. Aim of this report is to refer the craniofacial and oral characteristics of a pediatric patient. From the analysis of the literature it can be seen that only few studies have so far focused on the oral health status of subjects with PKS. Case report: We report the clinical case of an 8-year-old child undergoing a dental examination at the Pediatric Dentistry department of the University of Palermo. The intraoral clinical examination showed poor oral hygiene with plaque index (PI) equal to 2, carious lesions (dmft 7, DMFT 4), hypoplastic enamel of elements 2.1 and 3.1, anterior and posterior crossbite, third class molar and canine relationship and high and narrow palate with stair-palate appearance accompanied by mucous thickening of the upper alveolar arch. Bad habits of atypical swallowing and oral breathing are found. Craniofacial features include sparse hair, muscular hypotonia, telecanthus, short nose with wide root and dorsum, long labial philtrum, Pallister lip, eversion of the lower lip, concave profile with maxillary retrusion and mandibular prominence, and low implantation of the ears. Conclusions: This study underlines the importance of the multidisciplinary therapeutic approach, prevention and periodic dental checks for subjects suffering from PKS.