First trimester diagnosis of Pallister-Killian Syndrome in a fetus with suggestive abnormalities.

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Published Aug 31, 2010
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Vol. 88 No. 9 (2010): Issue Sep 2010

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Mechaal Mourali
Chiraz El Fekih
Kaouther Dimassi
Asma Fatnassi
Nabil Ben Zineb
Boujemaa Oueslati

Abstract

Background: Pallister-Killian Syndrome is a rare, sporadic chromosomal disorder characterized by a tetrasomy 12p often in mosaic. It is only in 2000 that the first case of PKS was diagnosed in the first trimester further to an increased nuchal translucency
Aim : Report a new case
Case report : To our knowledge, we present the first case of early prenatal diagnosis of Pallister Killian Syndrome due to the presence of an increased nuchal translucency, a diaphragmatic hernia, a typical facial dysmorphism and a micromelia of a predominantly rhizomelic type . A chorionic cells biopsy showed a normal karyotype. The diagnosis was revealed on cytogenetic analysis of amniotic fluid sampling.
Conclusion : The main ultrasound indicators of PKS seem to be: Hydramnios, congenital diaphragmatic hernia (CDH) and a micromelia of a rhizomelic type. The Hydrops fetalis, hygroma coli or increased nuchal translucency (INT), fetal overgrowth, ventriculomegaly and presence of a sacral appendix are less
common. The amniocentesis with the study of the karyotype on amniotic cells is considered to be the gold standard for the diagnosis of PKS.
A good morphological study during the first trimester in search of ultrasound abnormalities highly suggestive of PKS is able to direct the cytogenetic study.

Keywords:

Pallister-Killian syndrome, isochromosome 12p, increased nuchal translucency, diaphragmatic hernia

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