Case Reports in Genetics / 2011 / Article / Tab 2

Case Report

Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability

Table 2

MRI findings in patients with Vici syndrome.

ACCHypoplasia
of cerebellar
vermis/hemispheres
Hypoplasia
of pons
Cerebral
atrophy/
hypoplasia
Absent
septum
pellucidum
Dilated
ventricles
HeterotopiaPolymicrogyria/
abnormal
gyration

Past
cases
(1)+ (?)
(2)+++
(3)++++
(4)+++
(5)++
(6)++
(7)++
(8)+
(9)++
(10)++
(11)++++
(12)+++++

Present
cases
(13)++++
(14)++

+ Positive finding.
— Negative finding was specifically indicated in the literature.
(?) Patient 1 was assumed to have ACC due to positive ACC findings in sibling and clinical evaluation.
Blank space indicates that nothing was mentioned about that particular area in the literature.

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