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Article

[Pallister-Killian syndrome in a Mexican mestizo patient. Case report].

Archivos argentinos de pediatria - 1 Feb 2018

Mendelsberg-Fishbein Paola, García-Delgado Constanza, Muñoz-Martínez Linda B, Robledo-Cayetano Maura, Mejía-Marín Leonardo J, Martínez-Barrera Luis E, Cerrillo-Hinojosa Mabel, Moran-Barroso Verónica F

Abstract excerpt

Pallister-Killian syndrome is caused by a tetrasomy 12p mosaicism and is characterized by facial dysmorphism, pigmentary skin anomalies, congenital heart defects, diaphragmatic hernia, epilepsy and mental retardation. The diagnosis is complex as the cytogenetic analysis in blood is usually normal, requiring karyotyping in other tissues, therefore the clinical suspicion is critical to guide the diagnostic tests...

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Identifiers

PMID: 29333839
DOI: 10.5546/aap.2018.e135

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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