Skip to main content
. 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 IV.

Participant Characteristics: Age, Sex, OFC Percentile, Height Percentile, MRI Findings from Medical Records, and History of Seizures

# Age Sex OFC% Ht% MRI Findings Seizures
Overall Ventricles Other
64 1.25 f   98 45 abnormal enlarged white matter intensities, thin corpus callosum, prominent perivascular spaces no
52 1.5 f   40 50 abnormal white matter lesions no
41 2.0 f   50 25 NA no
59 2.2 f   50   3 abnormal mild volume loss, delayed myelination no
2 2.5 m   50 35 normal no
3 2.8 f >98   5 normal no
6 4.1 f >98 90 abnormal enlarged increased signal white matter no
53 4.3 m   50 75 abnormal volume loss on right (postoperative stroke) yes
7 4.3 m >98 25 abnormal enlarged prominent sulci, thin corpus callosum no
8 4.3 m >98 55 abnormal communicating hydrocephalus no
42 4.3 f     5 15 NA no
10 4.7 m >98 90 abnormal subcortical hyperintensities frontal lobe no
11 4.9 f   95 90 NA no
14 5.7 f >98 50 normal no
16 6.4 m >98 60 abnormal optic nerve tortuosity, arachnoid cyst yes
18 6.9 f   60 90 abnormal enlarged posterior fossa cyst no
19 7.1 m >98 75 NA no
47 7.3 m   50 50 abnormal enlarged delayed myelinization no
20 8.8 m   15 50 normal yes
21 8.8 m     2 25 NA no
48 9.0 f   50 10 NA no
57 9.8 f >98 95 NA no
24 9.9 f   50 30 NA no
25 10.0 m   50 65 abnormal hydrocephalusa no
45 10.3 m   20 <3 NA no
61 10.5 m   90 95 NA no
50 10.9 m >98 <3 abnormal small pituitary no
28 11.6 m   90 50 abnormal decreased white matter volume, thin corpus callosum no
62 13.3 f >98 50 NA yes
31 13.9 m   90 75 NA no
32 13.9 m >98 75 abnormal prominent perivascular spaces no
33 14.8 f   40   3 abnormal enlarged no
34 15.3 f   95   5 normal no
35 15.3 f   95 75 NA no
38 18.2 m   95 80 NA no
36 18.9 f   <2 <3 NA yes
37 21.3 f >98 95 normal no

Abbreviations: OFC% = head circumference percentile; Ht% = height percentile; NA = Not applicable (no MRI performed).

a

Hydrocephalus due to overproduction of cerebral spinal fluid, treated with a ventricular-atrial shunt.