Figure 2 Facial appearance and brain imaging

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Figure 2 Facial appearance and brain imaging Facial appearance and brain imaging (A) Patient IV-2, 25 years. (B) Patient IV-5, 16 years. (C) Patient IV-7, 23 years. (D) Control, 20 years. (A.a, B.a, and C.a) Photographs showing dysmorphism, with bulbous nose, broad nasal bridge, coarse features, and wide-open mouth. (A.b, B.b, and C.b) Axial T2-weighted sequence showing asymmetric ventriculomegaly (black stars) and mild hypointense aspect of the globus pallidus (arrows). Diffuse brain atrophy and loss of white matter without signal abnormality, particularly in occipito parietal areas, are also observed. (A.c, B.c, C.c, and D) Axial susceptibility weighted imaging sequence showing bilateral intense hyposignal of the globus pallidus, significantly predominant in their medial part (arrows, A.c, B.c, and C.c) compared with the control (D). Agathe Roubertie et al. Neurol Genet 2018;4:e217 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.