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  • Title: First trimester diagnosis of Pallister-Killian syndrome in a fetus with suggestive abnormalities.
    Author: Mourali M, El Fekih C, Dimassi K, Fatnassi A, Zineb NB, Oueslati B.
    Journal: Tunis Med; 2010 Sep; 88(9):666-9. PubMed ID: 20812182.
    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.
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