PMC5671701_01
(a) Patient's face showing broad forehead, high hair implantation, and light hypertelorism; (b) Pectus carinatum.
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fig1
((a) and (b)) Presence of cutis verticis gyrata proven in this MRI image.
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fig2
Bilateral hyperintensities in T2 in the occipitoparietal white matter.
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fig3
MRI revealed anteriorization and enlargement of the anterior-posterior diameter of the frontal sinus, reduction of the maxillary antrum (with hypopneumatization), scalp anomaly compatible with cutis verticis gyrata, probable small cyst of the pineal gland, subtle proptosis of the eyes, prominent cerebrospinal fluid spaces along the optic nerve sheaths, reductions in brain parenchyma incompatible with age (prominent in the posterior parietal regions), and FLAIR hyperintensities of white matter in the occipital horns, atria, posterior horns of the lateral ventricles, part of the corona radiata, and semioval centers, as well as in deep white matter of the superior, middle, and inferior frontal gyrus, the postcentral gyrus, and the upper and lower parietal lobes (Figure 3).
PMC5671701_02
Exon-intron structure of the human CADPS2/CAPS2 gene located on 7q31.32 and the approximate location of the 151 kb mutation found in the case described.
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fig4
Comparative genomic hybridization by oligonucleotide arrangement (microarray) showed a deletion of approximately 151 kb in the long arm of chromosome 7, which involved band 7q31-32 (Figure 4).