Pallister–Killian syndrome with fibular hypoplasia

a novel clinical manifestation

Abstract

Pallister–Killian syndrome (PKS) is a unique disorder in which affected individuals have tissue mosaics for four copies of the short arm of chromosome 12. We report a case with phenotypic features of PKS despite normal karyotype obtained prenatally. Tetrasomy 12p was identified using fluorescence in-situ hybridization. Among the frequently seen features of PKS in our case, bilateral fibular hypoplasia was found. It is worth mentioning that previous reported cases with PKS did not point to the presence of fibular hypoplasia. This case expands the spectrum of PKS phenotype.