Introduction: Pallister-Killian syndrome is characterised by intellectual disability, hypotonia, motor disability and a characteristic phenotype in which notable features include a rugged-looking face, alterations affecting the pigmentation of the skin and bitemporal alopecia. It is often associated with seizures and malformations in other organs and systems. The main cause is mosaicism for tetrasomy of chromosome 12p.
Case reports: We present three new paediatric cases of this rare entity, its clinical features are described and a literature review is carried out.
Conclusions: It is important to be familiar with the syndrome so that it can be diagnosed, since what commonly happens is that, without performing a skin biopsy or buccal smear, the chromosomal abnormality goes undetected if the classic cytogenetic techniques are used. Nowadays, the diagnosis can be performed in blood by means of CGH-array or SNP-array, although the chances of finding the chromosomal anomaly depend on the percentage of mosaicism.
Title: Presentacion de tres casos de sindrome de Pallister-Killian.
Introduccion. El sindrome de Pallister-Killian se caracteriza por discapacidad intelectual, hipotonia, retraso motor y un fenotipo caracteristico en el que destaca un aspecto facial tosco, alteraciones pigmentarias de la piel y alopecia bitemporal. Es frecuente que se asocie a crisis convulsivas y a malformaciones en otros organos y sistemas. Tiene como causa principal el mosaicismo para la tetrasomia del cromosoma 12p. Casos clinicos. Se presentan tres nuevos casos pediatricos afectos de esta rara entidad, se describen las caracteristicas clinicas y se realiza una revision de la bibliografia. Conclusiones. Debe resaltarse la importancia del conocimiento del sindrome para poder llevar a cabo su diagnostico, puesto que lo habitual es que, sin practicar la biopsia cutanea o el frotis de mucosa bucal, la anomalia cromosomica pasa desapercibida si se usan tecnicas citogeneticas clasicas. Hoy en dia, es posible realizar el diagnostico en sangre mediante array-CGH o array-SNP, si bien la posibilidad de encontrar la anomalia cromosomica depende del porcentaje de mosaicismo.