Pallister-Killian mosaic syndrome in an Omani newborn : a case report and literature review

Abstract EN

Pallister-Killian mosaic syndrome (PKS) is a rare sporadic condition with multiple congenital anomalies and intellectual deficits caused by mosaic tissue-limited tetrasomy of the short arm of chromosome 12 (12p).

The clinical features are highly variable, ranging from mild to severe.

Diagnosis is usually missed because of the low level of mosaicism in peripheral lymphocytes.

We present a case of an Omani newborn with PKS with severe clinical presentation and multisystem involvement that lead to postnatal death.

Karyotype and fluorescent in situ hybridization studies confirmed the presence of chromosome 12p duplication.

This is the first case of PKS reported in the literature from Oman and the Arab world.