臨床研究ジャーナル

Pallister-Killian Syndrome: The Importance of Clinical Findings

Abstract

Gilarte Herrera Cristina Eugenia, Llorente Ruiz Cristina, Miras Aguilar Isabel, Hernández Tienza Fátima, Olteanu Olteanu Filip Camil, Moreno Molinero Ana, De la Torre Sanz Ana, Mazarío Martín Esther and Montes Martín Laura

Pallister-Killian Syndrome is a rare genetic disease caused by mosaicism for tetrasomy of chromosome 12. It is characterized by dysmorphic phenotype and multiple organs malformation. This syndrome also includes developmental disabilities such as intellectual and motor disability, muscle hypotonia and it is often related with seizures. Here below we present the case of a patient diagnosed in early neonatal period, highlighting the importance of clinical findings which define this syndromet.