Joubert Syndrome (Familial Cerebellar Vermis Agenesis)
General: Autosomal recessive; both sexes affected; onset in early infan 434f54e cy.
Ocular: Choroidal coloboma; nystagmus; ocular fibrosis, telecanthus.
Clinical: Episodic hyperpnea; apnea; ataxia; psychomotor retardation; rhythmic protrusion of tongue; mental retardation; micrognathia; complex cardiac malformation; cutaneous dimples over wrists and elbows.
Jacobson DM, et al. Joubert's syndrome, ocular fibrosis, and normal histidine levels. Am J Ophthalmol 1992; 113: 714-716.
Joubert M, et al. Familial agenesis of the cerebellar vermis. Neurology 1969; 19:813-825.
Magalini SI, Scrascia E. Dictionary of Medical Syndromes. 2nd ed. Philadelphia: JB Lippincott. 1981.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
Squires LA, et al. Dysmorphic features of Joubert syndrome. Dysmorphol Clin Genet 1991; 5:72-77.
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