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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

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

Figure 1

Midsagittal T2-weighted MR images of a 22-year-old woman (A) and a 2-day-old neonate (B), modified from Poretti A et al, AJNR, 2008, with permission) with OFD VI reveal an enlarged posterior fossa with marked retrocerebellar CSF collection. Additionally, in both patients the brainstem appears dysmorphic: in A the midbrain is thickened, the tectum dysplastic (white arrow head), and the pons short; in B there is elongation of the mesencephalon, reduced size of the pons, and dysplasia of the tectum (black arrow head). In both patients the cerebellar vermis is hypoplastic and its remnants are dysplastic (black arrow in B), the massa intermedia is prominent, and in B a hypothalamic hamartoma is seen (white arrow) and the pituitary stalk appears thickened (white arrow head).

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