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  • Title: Fetal facial profile in Pallister-Killian syndrome.
    Author: Liberati M, Melchiorre K, D'Emilio I, Guanciali-Franchi PE, Iezzi I, Rotmensch S, Celentano C.
    Journal: Fetal Diagn Ther; 2008; 23(1):15-7. PubMed ID: 17934292.
    Abstract:
    Pallister-Killian syndrome (PKS) is a sporadic chromosomal anomaly, caused by a tissue-specific mosaic distribution of an additional isochromosome 12p. About 60 cases of prenatal diagnosis of PKS have been reported. Only 1 case of PKS is described on the basis of prenatal screening, presenting increased nuchal translucency. An abnormal fetal facial profile is described prenatally as sonographic evidence of PKS. We report a case of prenatal diagnosis in a fetus undergoing second-level scan due to positive triple screen with ultrasound features of PKS.
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