[Pallister-Killian syndrome with additional manifestations of cleft palate and sacral appendage]

ABSTRACT

Report of a rare congenital abnormalities. We report a rare case of Pallister-Killian syndrome in a 33 weeks gestation infant. In addition to the characteristic phenotype, this patient had a cleft palate, diaphragmatic hernia and sacral appendage. These additional manifestations are not among the Pallister-Killian syndrome's features. The diagnosis was made in antenatal period by cytogenetic studies and showed mosaic 47, XY +I [12p]. Presence of diaphragmatic hernia makes this syndrome, prenatally letal, similar to the Fryns syndrome and then requires skin biopsy and fiboblast chromosome examination for cytogenetic diagnosis