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Figure 4 | Orphanet Journal of Rare Diseases

Figure 4

From: Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

Figure 4

A, midsagittal, B, coronal, and C, axial T2-weighted MR image of a 2-day-old neonate with OFD VI show a hypothalamic hamartoma (white arrow in A, black arrow in B, and thick white arrow in C). Also shown are significant vermian hypoplasia and dysplasia (black arrow in A), enlarged fourth ventricle and posterior fossa, the characteristic MTS (thin white arrow in C), elongation of the mesencephalon, reduced size of the pons, thin corpus callosum, absent of the left leaf of the septum pellucidum, and a thickened pituitary stalk (white arrow head in A; modified from Poretti A et al, AJNR, 2008, with permission). D, midsagittal and E, coronal T2-weighted MR image of a 2.3-year-old boy with OFD VI show a left paramedian hypothalamic hamartoma (black arrow). Moreover, D shows hypoplasia and dysplasia of the cerebellar vermis and enlargement of the fourth ventricle.

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