Vol. 39 No. 1 (2024): Dental characteristics in Pallister-Killian Syndrome using Cone Beam Computed Tomography: Illustrated case report

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.