A case report of Pallister-Killian syndrome (PKS): newdental findings

Abstract

Introduction: Pallister-Killian syndrome (PKS) is a sporadic con-dition with autosomic tetrasomy of chromosome 12 p, resulting ina mosaic distribution of the supernumerary isochromosome. Wereport a case of PKS affecting an 11-year-old girl with 12 pmosaicism (karyotype 46, XX). Diagnosis was confirmed at 2 yearsof age. She presented with alopecia, dysmorphic facies, diaphrag-matic hernia, PDA and a dilated aorta root. Extra-oral findingsincluded facial asymmetry, low implantation of the ears and sparseeyebrows. The dental findings included delayed eruption, macr-odont maxillary right central incisor (or double tooth) withcongenital absence of the lateral incisor in both the primary andpermanent dentitions. There was an anterior single tooth crossbite,spacing, and a posterior cross-bite.Clinical management: The discrepancy in size between the maxil-lary permanent right and left central incisors presented a treatmentdilemma, because reduction of right central incisor was impracti-cal, so the left central incisor was built up to improve the aestheticsof the anterior region. All of the invasive procedures wereperformed under prophylactic antibiotic cover according to theadvice of her paediatrician. Due to her delayed dental develop-ment, orthodontic treatment has not yet been carried out.Conclusion: In PKS dental anomalies, such as macrodontia, maybe present. The management of this anomaly should be cognisantof the systemic problems and yet able to provide an aestheticoutcome.