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Article

Cerebellar hypoplasia: Differential diagnosis and diagnostic approach

16 May 2014

Abstract excerpt

Cerebellar hypoplasia (CH) refers to a cerebellum with a reduced volume, and is a common, but non-specific neuroimaging finding. The etiological spectrum of CH is wide and includes both primary (malformative) and secondary (disruptive) conditions. Primary conditions include chromosomal aberrations (e.g., trisomy 13 and 18), metabolic disorders (e.g., molybdenum cofactor deficiency, Smith-Lemli-Opitz syndrome, and...

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PMID: 24839100
DOI: 10.1002/ajmg.c.31398

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