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. Author manuscript; available in PMC: 2018 Oct 25.
Published in final edited form as: J Hum Genet. 2018 Apr 25;63(8):935–939. doi: 10.1038/s10038-018-0462-7

Fig 1.

Fig 1

Pedigree (A). Proband at age 2 years has frontal prominence, deep set eyes and midface hypoplasia (B, C). Magnetic resonance imaging of brain revealed thickening and lengthening of superior cerebellar peduncle (arrow head shows molar tooth sign, D), prominent cerebrospinal fluid space (asterix, D, E), thinning of corpus callosum (arrow, E), and perisylvian polymicrogyria (black arrow, F).