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Open Access 01-12-2019 | Trisomy 21 | Pictorial Review

Neuroimaging assessment in Down syndrome: a pictorial review

Authors: Marta Rodrigues, Joana Nunes, Sofia Figueiredo, António Martins de Campos, Ana Filipa Geraldo

Published in: Insights into Imaging | Issue 1/2019

Abstract

Down syndrome (DS), or trisomy 21, is the leading genetic cause of intellectual incapacity worldwide, with a reported incidence of about 1 in 1,000 to 1 in 1,100 live births. Besides the several commonly known physical features characteristic of this syndrome present at birth, DS may additionally affect every organ system. In addition, despite the large number of published papers concerning this syndrome, there is scarce literature focusing specifically in the typical neuroimaging features associated with this condition. The aim of this paper is to review and systematize the distinctive characteristics and abnormalities of the central nervous system, head and neck, and spine present in DS patients that should actively be searched for and evaluated by radiologists and/or neuroradiologists.

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Title: Neuroimaging assessment in Down syndrome: a pictorial review
Authors: Marta Rodrigues
Joana Nunes
Sofia Figueiredo
António Martins de Campos
Ana Filipa Geraldo
Publication date: 01-12-2019
Publisher: Springer Berlin Heidelberg
Keyword: Trisomy 21
Published in: Insights into Imaging / Issue 1/2019
Electronic ISSN: 1869-4101
DOI: https://doi.org/10.1186/s13244-019-0729-3

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Neuroimaging assessment in Down syndrome: a pictorial review

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