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. Author manuscript; available in PMC: 2016 Dec 1.
Published in final edited form as: Am J Med Genet A. 2015 Sep 3;167A(12):2916–2935. doi: 10.1002/ajmg.a.37340

Table III.

Participant Characteristics: Age, Sex, OFC Percentile, Height Percentile, Reviewed MRI/CT Findings, and History of Seizures

# Age Sex OFC% Ht% Reviewed MRI Findings Seizures
Cerebellar Vermis Ventricles White Matter Other
1 1.3 f 50 50 normal moderate dilation thin white matter, thin CC, increased T2 signal small midbrain and pons no
39 2.2 f >98 55 hypoplasia mild dilation NAa increased extra-axial space no
4 3.9 f >98 95 normal asymmetric, mild dilation normal large posterior fossa with increased extra-axial space no
5 4.0 m >98 75 hypoplasia mild dilation thin CC, thin white matter, increased T2 signal occipital lobes prominent extra axial spaces, posterior fossa cyst yes
56 4.3 m >98 90 mild hypoplasia moderate dilation rounded CC, thin white matter Increased extra-axial space yes
9 4.6 m 35 15 hypoplasia shunted hydrocephalus collapsed CC (secondary to shunt) large frontal lobes, small pons, increased extra-axial space posterior fossa yes
12 5.3 m 50 35 normal normal increased T2 signal occipital lobes increased extra-axial space posterior fossa yes
13 5.6 f 95 90 mild hypoplasia asymmetric, mild dilation increased T2 signal, thin white matter, rounded CC increased extra-axial fluid no
15 5.9 f >98 5 normal moderate dilationb increased T2 signal, thin rounded CC, thin white matter cerebellar tonsil ectopia, increased extra-axial space no
17 6.8 f 45 15 mild anterior atrophy normal increased T2 signal frontal lobes cavum septum pellucidum no
22 7.9 m 60 10 normal Mild asymmetry lateral ventricles mildly thin white matter no
23 9.7 f >98 95 normal mild dilation Immature white matter, increased perivascular space increased extra-axial space yes
26 10.9 m >98 5 mild hypoplasia asymmetric, mild dilation normal posterior fossa cyst no
27 11.0 f 80 70 mild anterior atrophy mild dilation mildly thin posterior white matter no
29 12.2 m 45 20 hypoplasia mild dilation thin CC, thin white matter Posterior fossa cyst no
30 13.7 f >98 95 small, mild atrophy, prominent folia mild dilation increased T2 signal frontal, parietal, occipital lobes no

Abbreviations: OFC% = head circumference percentile; Ht% = height percentile; CC = corpus callosum

a

Only CT scan available for review.

b

MRI done at age 17 months. At 18 months had VP shunt placed for hydrocephalus.