Oral findings and healthcare management in Shashi-Pena syndrome

Abstract

Shashi Pena syndrome (SHAPNS) is a newly recognized and rare neurodevelopmental disorder with unique phenotypic features. The syndrome is caused by truncating variants in ASXL2 gene. To date, there are only seven documented cases in scientific literature, but oral and dental findings are sparsely reported. Here, we present a new case of SHAPNS and describe the oro-dental findings and oral healthcare management of affected patients.

Keywords: ASXL, ASXL2, manifestations, oral, Pena, rare disease, Shashi; syndrome.