Pallister-Killian syndrome: difficulties of prenatal diagnosis.

@article{Doray2002PallisterKillianSD,
  title={Pallister-Killian syndrome: difficulties of prenatal diagnosis.},
  author={B. J. Doray and Françoise Girard-Lemaire and Bernard Gasser and J J Baldauf and Bernard de Geeter and Mich{\`e}le Spizzo and Charles Zeidan and Elisabeth Flori},
  journal={Prenatal diagnosis},
  year={2002},
  volume={22 6},
  pages={470-7}
}
The first prenatal diagnosis of Pallister-Killian syndrome (PKS) was reported by Gilgenkrantz et al. in1985. Since this report, about 60 prenatal cases have been reported but both sonographic and cytogenetic diagnoses remain difficult. Although ultrasound anomalies such as congenital diaphragmatic hernia, polyhydramnios and rhizomelic micromelia in association with fetal overgrowth are very suggestive of the syndrome, they are inconstant and they may even be absent. The mosaic distribution of… CONTINUE READING
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