Prenatal diagnosis of Pallister Killian Syndrome in a fetus with congenital diaphragmatic hernia, short limbs, and increased nuchal translucency

摘要

Pallister Killian Syndrome (PKS) is a very rare genetic condition. The first prenatal diagnosis of this dysmorphic syndrome was reported by Gilgenkrantz et al in 1985 [1]. It can present in the prenatal period with several congenital malformations and abnormal ultrasound findings, among which, congenital diaphragmatic hernia and rhizomelic shortening of the limbs are fairly common. Presentation of increased nuchal translucency in the first trimester has also been reported [2]. Although there are various clinical findings, cytogenetic findings are constant and must include a tetrasomy of chromosome 12p to be diagnosed as such. Because most of these cases have a mosaic karyotype, genetic studies of the chorionic villous tissue usually result in inconclusive diagnoses, and therefore, the amniocentesis has become the gold standard technique to diagnose PKS [3].