Dental characteristics in Pallister-Killian Syndrome using Cone Beam Computed Tomography: Illustrated case report.

Issa, Julien;Olszewski, Raphaël
(2024) Nemesis : Negative Effects in Medical Sciences, Oral and Maxillofacial surgery — Vol. 39, n° 1, p. 1-12 (2024)

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Abstract
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.
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Citations

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)