'Joubert syndrome' revisited: Key ocular motor signs with magnetic resonance imaging correlation

Journal of Child Neurology

Volumn 12, Issue 7, 1997, Pages 423-430

  Maria, Bernard L ^a   Hoang, Karin B N ^a   Tusa, Ronald J ^b   Mancuso, Anthony A ^a   Hamed, Latif M ^a   Quisling, Ronald G ^a   Hove, Martin T ^b   Fennell, Eileen B ^a   Booth Jones, Margaret ^a   Ringdahl, Deborah M ^a   Yachnis, Anthony T ^a   Creel, Gwen ^a   Frerking, Beth ^a  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EYE MOVEMENT DISORDER; FEMALE; HUMAN; JOUBERT SYNDROME; MALE; NEUROOPHTHALMOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SMOOTH PURSUIT EYE MOVEMENT; VESTIBULOOCULAR REFLEX;

EID: 0031438402     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307389701200703     Document Type: Article

References (34)

1. Joubert M, Eisenring J-J, Robb JP, Andermann F: Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 1969;19:813-825.
2. Boltshauser E, Isler W: Joubert syndrome: Episodic hyperpnea, abnormal eye movements, retardation, and ataxia, associated with dysplasia of the cerebellar vermis. Neuropediatrics 1977;8: 57-66.
3. Kendall B, Kingsley D, Lambert SR, et al: Joubert syndrome: A clinico-radiological study. Neuroradiology 1990;31:502-506.
4. Calogero JA; Vermian agenesis and unsegmented midbrain tectum. J Neurosurg 1977;47:605-608.
5. Egger J, Bellman MH, Ross EM, Baraitser M: Joubert-Boltshauser syndrome with polydactyly in siblings. J Neurol Neurosurg Psychiatry 1982;45:737-739.
6. Laverda AM, Saia DS, Drigo P, et al: Chorioretinal coloboma and Joubert syndrome: A nonrandom association. J Pediatr 1984;105: 282-284.
7. Squires LA, Raymond G, Neumeyer AM, et al: Dysmorphic features of Joubert syndrome. Dysmorph Clin Gen 1991;5:72-77.
8. King MD, Dudgeon J, Stephenson JBP: Joubert's syndrome with retinal dysplasia: Neonatal tachypnoea as the clue to a genetic brain-eye malformation. Arch Dis Child 1984;59:709-718.
9. Lindhout D, Barth PG, Valk J, Boen-Tan TN: The Joubert syndrome associated with bilateral chorioretinal coloboma. Eur J Pediatr 1980;134:173-176.
10. van Dorp DB, Palan A, Kwee ML, et al: Joubert syndrome: A clinical and pathological description of an affected male and a female fetus from the same sibship. Am J Med Genet 1991;40:100-104.
11. Verloes A, Lambotte C: Further delineation of a syndrome of cerebellar vermis hypoplasia, oliogophrenia, congenital ataxia, coloboma and hepatic fibrosis. Am J Med Genet 1989;32:227-232.
12. Wakakura M, Hatono N, Tateno S: Cerebello-oculo-hepato-renal syndrome with possible mitochondrial dysfunction. Jpn J Ophthalmol 1993;37:62-69.
13. Saraiva JM, Baraitser M: Joubert syndrome: A review. Am J Med Genet 1992;43:726-731.
14. Lambert SR, Kriss A, Gresty M, et al: Joubert syndrome. Arch Ophthalmol 1989;107:709-713.
15. Holroyd S, Reiss AL, Bryan RN: Autistic features in Joubert Syndrome: A genetic disorder with agenesis of the cerebellar vermis. Biol Psychiatry 1991;29:287-294.
16. Altman NR, Naidich TP, Braffman BH: Posterior fossa malformations. AJNR Am J Neuroradiol 1992;13:691-724.
17. Shen WC, Shian WJ, Chen CC, et al: MRI of Joubert's syndrome. Eur J Radial 1994;18:30-33.
18. Barkovich AJ, Maroldo TV: Magnetic resonance imaging of normal and abnormal brain development. Top Magn Reson Imaging 1993;5:96-122.
19. Appleton RE, Chitayat D, Jan JE, et al: Joubert's syndrome associated with congenital ocular fibrosis and histidinemia. Arch Neurol 1989;46:579-582.
20. Moore AT, Taylor DSI: A syndrome of congenital retinal dystrophy and saccade palsy - a subset of Leber's amaurosis. Br J Ophthalmol 1984;68:421-431.
21. Jacobson DM, Johnson R, Frens DB: Joubert's syndrome, ocular fibrosis, and normal histidine levels, letter. Am J Ophthalmol 1992;113:714-716.
22. Friede RL, Boltshauser E: Uncommon syndromes of cerebellar vermis aplasia. I. Joubert syndrome. Dev Med Child Neurol 1978;20: 758-763.
23. Campbell S, Tsannatos C, Pearce JM: The prenatal diagnosis of Joubert's syndrome of familial agenesis of the cerebellar vermis. Prenat Diagn 1984;4:391-395.
24. Sidman RL, Rakic P: Development of the human central nervous system, in Haymaker W, Adams RD (eds): Histology and Histopathology of the Nervous System. Springfield, IL, Charles C. Thomas, 1982, pp 94-110.
25. Hatten ME, Heintz N: Mechanisms of neural patterning and specification in the developing cerebellum. Annu Rev Neurosci 1995; 18:385-408.
26. Fritsch R, Grass P: Murine paired box containing genes, in Robertson EJ, Maxfield FR, Vogel HJ (eds): Cell-Cell Signalling in Vertebrate Development. San Diego, Academic, 1993, pp 229-245.
27. Gruss P, Walther C: Pax in development. Cell 1992;69:719-722.
28. Davis CA, Joyner AL: Expression patterns of homeobox con, taining genes En-1 and En-2 and the proto-oncogene diverge during mouse development. Genes Dev 1988;2:1736-1744.
29. McMahon AP, Joyner AL, Bradley A, McMahon JA: The midbrain-hindbrain phenotype of Wnt-1/Wnt-1-mice results from stepwise deletion of engrailed-expressing cells by 9.5 days postcoitum. Cell 1992;69:581-595.
30. Wurst W, Auerbach AB, Joyner AL: Multiple developmental defects in Engrailed-1 mutant mice: An early mid-hindbrain deletion and patterning defects in forelimbs and sternum. Development 1994; 120:2065-2075.
31. Millen KJ, Wurst W, Herrup K, Joyner AL: Abnormal embryonic cerebellar development and patterning of postnatal foliation in two mouse Engrailed-2 mutants. Development 1994; 120:695-706.
32. Thomas KR, Capecchi MR: Targeted disruption of the murine int-1 proto-oncogene resulting in severe abnormalities in midbrain and cerebellar development. Nature 1990;346:847-850.
33. Hawkes R: Antigenic markers of cerebellar modules in the adult mouse. Biochem Soc Trans 1992;20:391-395.
34. Ziegler AL, Deonna T, Calame A: Hidden intelligence of a multiply handicapped child with Joubert syndrome. Dev Med Child Neurol 1990;32:258-266.