Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication

We report a left-sided PS patient carrying a de novo 1.5 Mb Xp22.31 duplication diagnosed in addiction to strabismus, optic nerves and chiasm hypoplasia, corpus callosum abnormalities, ectopic neurohypophysis, pyelic ectasia, and neurodevelopmental delay. Since, to our knowledge, this features' association has not been previously reported, we argue that this case may contribute to further widening of the variability of PS phenotype. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text

Source: Neuropediatrics - February 2, 2020 Category: Neurology Authors: Massimino, Carmela R. Smilari, Pierluigi Greco, Filippo Marino, Silvia Vecchio, Davide Bartuli, Andrea Parisi, Pasquale Cho, Sung Y. Pavone, Piero Tags: Short Communication Source Type: research