Bilateral Hearing Loss in a Pallister–Killian Syndrome Patient

Abstract Pallister–Killian syndrome (PKS) is a rare genetic disorder with multidisciplinary involvement caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). The audiological findings obtained in patients with PKS have been limited in the literature. This report describes a 17-month-old boy with mixed hearing loss presented with PKS. Due to multiple systemic abnormalities seen in individuals with PKS, individuals with suspected hearing loss should be included in the amplification and rehabilitation process with early diagnosis.