Abstract
The Pallister-Killian syndrome (PKS) is an extremely rare genetic disorder with an incidence estimated around 1/25000. PKS is a multiple congenital anomaly deficit syndrome caused by mosaic tissue limited tetrasomy for chromosome 12p. The presented report is the first confirmed case with PKS in Turkey. This report focuses on the orofacial clinical manifestations of an 6-year-old boy with PKS who was referred to the Department of Paediatric Dentistry clinic, Gazi University. It has been learned that the PKS was diagnosed 1 year after birth. Due to intellectual disability, it was decided to make the dental treatments under moderate sedation. Although significant tongue thrust and anterior open bite were determined, any oral appliances could not be applied because of the 2 epilepsy seizures in the last 2 years. The aim was to treat decayed teeth and set good oral hygiene in the patient's mouth. Still, there is a probability for epilepsy seizures. If epileptic seizures stop permanently, we can apply an oral appliance to block tongue thrust. The patient is now under control. In cases of systemic and oral findings such as PKS, conducting medical and dental approaches together will increase the life quality of patients.
Highlights
The Pallister-Killian syndrome (PKS) is an extremely rare genetic disorder with an incidence estimated around 1/25000
When genetic changes occur somatically, the individual exhibits cells with at least two different genotypes, and this state is known as mosaicism [3]
Somatic mosaicism is defined as the presence of two or more populations of cells with different genotypes in an individual who has developed from a single fertilized egg [2]
Summary
The Pallister-Killian syndrome (PKS) is an extremely rare genetic disorder with an incidence estimated around 1/25000. PKS is a multiple congenital anomaly complex mosaic genetic duplication syndrome caused by mosaic tissue limited tetrasomy for chromosome 12p. It is defined as a mosaic condition as a result of not all cells having an extra chromosome [1, 2]. In perinatally diagnosed cases, a much higher incidence of internal organ anomalies, like congenital diaphragmatic hernia, cardiovascular anomalies, and anorectal anomalies, is noted [7]. This age-dependent phenotype expression is another characteristic of PKS [4]. The presented case is the first confirmed dental patient with PKS in Turkey
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