Pallister-Killian Syndrome: A Case Study

Abstract

Pallister-Killian syndrome (PKS) is an extremely rare medical condition characterized by tetrasomy of P arm in 12^th chromosome Individuals with this condition have also isochromosomic mosaicism. Pigmentation disorders mental retardation, seizures and hypotonia are common features of the syndrome. Anatomic malformation such as extremity deformities, short neck, frontal bossing, cardiac and renal pathologies are hallmark of clinical presentation in PKS. Here, we present a two-month-old boy with typical case of PKS, and would like to increase attention to Pallister-Killian Syndrome.