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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