Pallister-Killian Syndrome (PKS) is a rare genetic disorder characterized by the mosaic presence of a supernumerary isochromosome consisting of two short arms of chromosome 12, leading to a variety of complications, including those related to oral and dental health. This case report marks the first case report on the dental characteristics of a patient with PKS using cone beam computed tomography (CBCT). A 17-year-old female with PKS was reported exhibiting bilateral maxillary sinus hypoplasia, along with taurodontism in teeth n°15 and n°16, and an unusual “crayon-like” morphology in teeth n°14, n°15 and n°25. Moreover, hypoplasia of the sphenoidal sinuses, accompanied by left sphenoidal sinusitis, was noted. A multidisciplinary dental approach is advocated for managing individuals with PKS. Further research incorporating a larger sample is critical to comprehensively assessing the dental features of PKS using dental radiography. Additionally, the development of an open-source CBCT database cataloging dental characteristics for rare dental conditions, including PKS, may be a suitable tool to access to reference images and to share information on orphan diseases with dental implications.
Department of Perioperative Dentistry, L. Rydygiera Collegium Medicum in BydgoszczNicolaus Copernicus University in Torun, Poland
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Issa, J., & Olszewski, R. (2024). Dental characteristics in Pallister-Killian Syndrome using Cone Beam Computed Tomography: Illustrated case report. Nemesis : Negative Effects in Medical Sciences, Oral and Maxillofacial surgery, 39(1), 1-12. https://doi.org/10.14428/nemesis.v39i1.86383 (Original work published 2024)