Joubert's syndrome and prenatal hydrocephalus

Pediatric Neurology

Volumn 20, Issue 5, 1999, Pages 403-405

  Anderson, Jeffrey S ^b   Gorey, Michael T ^b   Pasternak, Joseph F ^a   Trommer, Barbara L ^a  

^a EVANSTON HOSPITAL   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN FOURTH VENTRICLE; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; CEREBELLUM VERMIS; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL HYDROCEPHALUS; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DYSPNEA; EVOKED AUDITORY RESPONSE; EVOKED BRAIN STEM RESPONSE; FEMALE; HUMAN; JOUBERT SYNDROME; LEBER CONGENITAL AMAUROSIS; MUSCLE HYPOTONIA; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; TACHYPNEA;

EID: 0033046522     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0887-8994(99)00008-9     Document Type: Article

References (15)

1. Joubert M., Eisenring J.J., Robb J.P., Andermann F. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology. 19:1969;813-825.
2. Sener R.N. MR imaging of Joubert's syndrome. Comput Med Imaging Graph. 19:1995;481-486.
3. Kendall B., Kingsley D., Lambert S.R., Taylor D., Finn P. Joubert syndrome A clinico-radiological study . Neuroradiology. 31:1990;502-506.
4. Saraiva J.M., Baraitser M. Joubert syndrome A review . Am J Med Genet. 43:1992;726-731.
5. Smith R.A., Gardner-Medwin D. Orofaciodigital syndrome type III in two sibs. J Med Genet. 30:1993;870-872.
6. Sener R.N. Cerebellar vermian clefts disconnecting the hemispheres A different entity unassociated with Joubert's syndrome . Comput Med Imaging Graph. 21:1997;71-75.
7. Cantani A., Lucenti P., Ronzani G.A., Santoro C. Joubert syndrome Review of the fifty-three cases so far published . Ann Genet. 33:1990;96-98.
8. Humbertclaude V.T., Coubes P.A., Leboucq N., Echenne B.B. Familial Dandy-Walker malformation and leukodystrophy. Pediatr Neurol. 16:1997;326-328.
9. Lambert S., Kriss A., Gresty M., Benton S., Taylor D. Joubert syndrome. Arch Ophthalmol. 107:1989;709-713.
10. DeSouza N., Chaudhuri R., Bingham J., Cox T. MRI in cerebellar hypoplasia. Neuroradiology. 36:1994;148-151.
11. Maria B.L., Hoang K.B.N., Tusa R.J., et al. "Joubert's syndrome" revisited Key ocular motor signs with magnetic resonance imaging correlation . J Child Neurol. 12:1997;423-430.
12. Harmant-van Rijckevorsel G., Aubert-Tulkens G., Moulin D., Lyon G. Le syndrome de Joubert. Etude clinique et anatomo-pathologique. Rev Neurol. 139:1983;715-724.
13. Evrard P., Caviness V.S. Extensive developmental defect of the cerebellum associated with posterior fossa ventriculocele. J Neuropathol Exp Neurol. 33:1979;385-399.
14. Egger J., Bellman M.H., Ross E.M., Baraitser M. Joubert-Boltshauser syndrome with polydactyly in siblings. J Neurol Neurosurg Psychiatry. 45:1982;737-739.
15. Krieger A.J., Detwiler J., Trooskin S. Respiration in an infant with the Dandy-Walker syndrome. Neurology. 24:1974;1964-1967.