Pallister-Killian syndrome: a report of 2 cases and review of its surgical aspects

Pallister-Killian syndrome (PKS) is a rare mosaic genetic disorder defined by the presence of isochromosome for the short arm of chromosome 12. The authors report 2 new cases of PKS with prenatal diagnosis of tetrasomy 12p made by cytogenetic study of amniocytes. Typical dysmorphic craniofacial features were noted postnatally. Both newborns were referred to a surgical department because of congenital anomalies requiring operative management. One had an imperforate anus with an anocutaneous fistula and underwent minor anorectoplasty on day 2 of life. The second newborn required emergency laparotomy because of malrotation with midgut volvulus. This is the first report of clinical manifestation of malrotation in a patient with PKS. The authors undertook a detailed review of reported to date cases of PKS with special emphasis on its surgical aspects.