Joubert syndrome: A classic case
Joubert syndrome is a rare autosomal recessive disorder characterized by hyperpnoea and eye movements, hypotonia, ataxia, developmental retardation with neuropathologic abnormalities of cerebellum and brainstem including inherited hypoplasia or aplasia of vermis. Cerebellar vermin anomalies are desc...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wolters Kluwer Medknow Publications
2019-01-01
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Series: | Journal of Family Medicine and Primary Care |
Subjects: | |
Online Access: | http://www.jfmpc.com/article.asp?issn=2249-4863;year=2019;volume=8;issue=1;spage=311;epage=312;aulast=Kumar |