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Table 1 Major neuroimaging findings in Down syndrome patients

From: Neuroimaging assessment in Down syndrome: a pictorial review

Organ system Major imaging findings
Head and neck Reduction in head size/microcephaly
Brachycephaly without craniosynostosis
Platybasia
Macroglossia
Stenotic external auditory canal
Ossicular chain abnormalities
Hypoplasia/aplasia of the bony island of the lateral semi-circular canal
Semi-circular canal dehiscence
Stenosis of the cochlear nerve canal
Stenosis of the internal auditory canal
Brain Overall reduced brain volume
Progressive brain atrophy
Basal ganglia calcifications
Malformations of the corpus callosum
Stroke or hemorrhage (complications of moyamoya syndrome)
Spine Craniocervical instability
Flattened surface of the occipital condyles
Bifid anterior or posterior C1 arches
Atlanto-occipital assimilation
Congenital Os Odontoideum
“Mickey Mouse” pelvis
Vascular Moyamoya syndrome
Aberrant subclavian artery