@entity14475 is characterized by @entity2749 and @entity386 , @entity245 , @entity2421 , @entity2055 , @entity854 , and @entity16490 . We studied 15 @entity1 with the diagnosis of @entity14475 to (1) more fully define the syndrome's clinical features, and (2) correlate the clinical features with magnetic resonance imaging (MRI) findings. Eight of 15 @entity1 had a history of @entity2749 and @entity386 . All @entity1 had @entity245 and @entity2421 . Of the 13 @entity1 receiving detailed neuro-ophthalmologic evaluations, three had @entity1781 , @entity346 , and gaze-holding nystagmus. All 13 @entity1 had a normal vestibulo-ocular reflex based on head thrust, but had absent to poor ability to cancel the vestibulo-ocular reflex horizontally and vertically. Twelve of 13 @entity1 had impaired smooth pursuit. Twelve of 13 @entity1 had defects in initiation of saccades and quick phases. Two of the most consistent radiologic features were absent or hypoplastic @entity76 , and deformed midbrain and pontomesencephalic junction, which based on ocular motor physiology correlate with the vestibulo-ocular reflex cancellation/ pursuit defect and saccade initiation defect, respectively. As a result of midbrain, vermian, and superior @entity76 , axial neuroimaging showed a unique "molar tooth" appearance of these structures. These results indicate that @entity14475 results from maldevelopment of the midbrain and cerebellar vermis, producing a pathognomonic sign on MRI.

" XXXX " revisited: key ocular motor signs with magnetic resonance imaging correlation.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity2749 :: ('MESH:C580065', 'Disease') :: ['episodic hyperpnea'] @entity14475 :: ('MESH:C536293', 'Disease') :: ['Joubert syndrome'] @entity16490 :: ('MESH:D050033', 'Disease') :: ['vermian dysgenesis'] @entity245 :: ('MESH:D002658', 'Disease') :: ['developmental delay'] @entity854 :: ('MESH:D018376', 'Disease') :: ['ophthalmologic abnormalities'] @entity2421 :: ('MESH:D009123', 'Disease') :: ['hypotonia'] @entity1781 :: ('MESH:D009901', 'Disease') :: ['optic nerve dysplasia'] @entity76 :: ('MESH:D002526', 'Disease') :: ['cerebellar peduncle abnormalities', 'posterior cerebellar vermis'] @entity346 :: ('MESH:D009759', 'Disease') :: ['pendular nystagmus'] @entity2055 :: ('MESH:D001259', 'Disease') :: ['truncal ataxia'] @entity386 :: ('MESH:D001049', 'Disease') :: ['apnea']
@entity14475 :: (MESH:C536293,Disease) :: ['Joubert syndrome']
