Fig. 1. The patient at 8 years of age showing typical facial features of Kabuki make-up syndrome (A); a brain MRI study revealed cerebellar and brainstem atrophy (B-D).
Cerebellar infarction in a patient with Waardenburg syndrome
β Scribed by Narod, Steven A. ;Siegel-Bartelt, Jacqueline ;Hoffman, H. J. ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1988
- Tongue
- English
- Weight
- 279 KB
- Volume
- 31
- Category
- Article
- ISSN
- 0148-7299
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Waardenburg syndrome [WS] is a combination of deafness and pigmentary disturbances, inherited as an autosomal-dominant condition. The full syndrome comprises congenital nonprogressive bilateral sensorineural deafness, heterochromia irides, white forelock, and patches of white, depigmented skin. All
## Abstract Joubert syndrome (JS) is characterized by absence of decussation of both corticospinal tracts and superior cerebellar peduncles (SCP). Our hypothesis was that evidence for absence of SCP decussation may be found on routine brain MRI studies. Midsagittal T1βweighted images from 20 JS pat