Neurology Specific Literature Search   
 
[home][thesaurus]
    
Click Here to return To Results

 

Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
See this aricle in Pubmed

Article Abstract
Oculodentodigital dysplasia, a rare genetic disorder caused by mutations in the gene encoding gap junction protein 1, classically presents wit typical facial features, dental and ocular anomalies, and syndactyly. Diffuse supratentorial hypomyelination, T2-hypointense Rolandic and primary visual cortex, and symmetric involvement of middle cerebellar penduncle, pyramidal tract, and medial lemniscus was present in all.
 
Related Tags
(click to filter results - removes previous filter)

ataxia
basal ganglia,calcification of
brainstem,lesion of
CAT scan,abnormal
children
developmental retardation
epicanthal folds
facial appearance,abnormal
gene mutation
genetic neurologic disorders
genetic testing
hypomyelination
leukodystrophy
microdontia
middle cerebellar peduncle
middle cerebellar peduncle,lesion,bilateral
MRI,abnormal
oculodentodigital dysplasia
paraparesis
paraparesis,spastic
seizure
symmetric brain lesions
syndactyly
teeth,abnormal
urinary incontinence
white matter disease

Click Here to return To Results