Introduction: Pallister-Killian syndrome (PKS) is a sporadic and rare developmental disorder with an incidence of 1/25,000 live births/year. It is characterized by multisystem involvement and is caused by the presence of a supernumerary isochromosome 12p-i(12)(p10) that determines 12p tetrasomy, with a mosaic distribution across different cell lines. The aim of this case report is to describe the craniofacial and oral characteristics and clinical management of a paediatric patient. An analysis of the literature reveals that only a few studies have focused on the oral health status of individuals with Pallister-Killian syndrome.
Case report: We report the case of an 8-year-old boy presenting to the paediatric dentistry department of the University of Palermo. The intraoral clinical examination showed poor oral hygiene with a plaque index (PI) of 2, carious lesions (dmft 7, DMFT 5), anterior and posterior crossbite, a class III molar and canine relationship, and a high and narrow palate with stair palate accompanied by mucous thickening of the upper alveolar arch. Furthermore, atypical swallowing and oral breathing were found. Craniofacial features include sparse hair, muscular hypotonia, telecanthus, short nose with a flat and broad bridge, long labial philtrum, Pallister lip, eversion of the lower lip, concave profile with maxillary retrusion and mandibular prominence, and low-set ears.
Conclusion: This case highlights the importance of a multidisciplinary therapeutic approach, preventive strategies, and regular dental check-ups for individuals with Pallister-Killian syndrome.
