Article Figures & Data
Figures
- FIG 1.
Brain MR images. A and D, Variable degrees of corpus callosum deformities, particularly involving the body and splenium, noting partial agenesis in D. Deformed morphology of the posterior fossa, with variable degrees of low insertion of the torcula and size reduction of the supraoccipital line (SOL). Note the crowded appearance of the structures in the posterior fossa along with low disposition of the cerebellar tonsils, fitting in the Chiari I deformity criteria in C and D. E–H, Variable degrees of reduced size and/or internal rotational appearance of the head of the caudate nuclei, resulting in an enlarged and squared appearance of the frontal horns.
- FIG 2.
Brain MR images. Axial T2WI (A–C) and axial T1WI (D) showing 4 different patients with variable degrees of diffuse abnormal orientation and morphology of the gyri and sulci. Note particular abnormal morphology involving both frontal lobes (open arrows, A), a deformed perirolandic region (asterisks, B), and abnormal gyration of the medial frontal lobes in C and D (open arrowheads, C and D). Axial T2WI (E–H) shows 4 different patients with temporal pole hypoplasia.
Tables
- Table 1:
Demographic, genetic, and clinical information of individuals with disease-causing missense variantsa
Characteristics Individuals
(n = 18)Age at last evaluation (yr) 4.46 (1.9–12.1) Sex: female/male (8:10) H3F3 variant H3F3A 11 (61) H3F3B 7 (39) Microcephaly 8 (44) Seizures 10 (56) Febrile 5 (50) Nonfebrile 5 (50) Sitting (n = 17) Normal 1 (6) Delayed 12 (71) Not achieved 4 (23) Walking Normal 2 (11) Delayed 10 (56) Not achieved 6 (33) Speaking Normal 1 (6) Delayed 7 (38) Not achieved 10 (56) ↵a Categoric variables are described as number (percentage). Continuous variables are described as median (1Q–3Q).
- Table 2:
Abnormal imaging information of individuals with disease-causing H3F3 missense variantsa
Imaging Features Individuals(n = 18) Small posterior fossa 13 (72) Cerebellum 2 (11) Brainstem 2 (11) Thalamus 0 Caudate 8 (44) Putamen 0 Globus pallidum 0 Corpus callosum 5 (28) Fourth ventricle 6 (33) Lateral ventricle 7 (38) White matter 2 Cortex 8 (44) Optic nerves and chiasm 1 (6) Temporal lobes/hippocampus 8 (44) Clivus/sella 4 (22) ↵a Categoric variables are described as number (percentage).
