Abstract
A 13-month-old girl presented with developmental delay, generalized hypotonia, vertical pendular nystagmus, and cranial nerves IV, V, and VII paresis. MRI (figure) revealed pontine hypoplasia with ectopic dorsal transverse pontine fibers (tegmental cap). Concomitant profound sensorineural deafness and a butterfly Th2 vertebra led to the syndromic diagnosis …
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