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Volumn 19, Issue 3, 2004, Pages 227-231

Neuroepithelial cysts in a patient with Joubert syndrome plus renal cysts

Author keywords

[No Author keywords available]

Indexed keywords

AGENESIS; ARTICLE; ATAXIA; BREATHING DISORDER; CASE REPORT; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CLINICAL FEATURE; CYST; DEVELOPMENTAL DISORDER; EYE MOVEMENT DISORDER; GENETIC DISORDER; HUMAN; JOUBERT SYNDROME; KIDNEY CYST; MALE; MUSCLE HYPOTONIA; NEUROEPITHELIUM; NEUROLOGIC DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 2342429793     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (6)

References (42)
  • 1
    • 0014263933 scopus 로고
    • Familial dysgenesis of the vermis: A syndrome of hyperventilation, abnormal eye movements and retardation
    • Joubert M, Eisenring JJ, Andermann F: Familial dysgenesis of the vermis: A syndrome of hyperventilation, abnormal eye movements and retardation. Neurology 1968;18:302-303.
    • (1968) Neurology , vol.18 , pp. 302-303
    • Joubert, M.1    Eisenring, J.J.2    Andermann, F.3
  • 2
    • 0017577011 scopus 로고
    • Joubert syndrome: Episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis
    • Boltshauser E, Isler W: Joubert syndrome: Episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. Neuropadiatrie 1977;8:57-66.
    • (1977) Neuropadiatrie , vol.8 , pp. 57-66
    • Boltshauser, E.1    Isler, W.2
  • 3
    • 0027160935 scopus 로고
    • Cognitive development and behavior in Joubert syndrome
    • Deonna T, Ziegler AL: Cognitive development and behavior in Joubert syndrome. Biol Psychiatry 1993;33:854-855.
    • (1993) Biol. Psychiatry , vol.33 , pp. 854-855
    • Deonna, T.1    Ziegler, A.L.2
  • 4
    • 0025777864 scopus 로고
    • Autistic features in Joubert syndrome: A genetic disorder with agenesis of the cerebellar vermis
    • 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.
    • (1991) Biol. Psychiatry , vol.29 , pp. 287-294
    • Holroyd, S.1    Reiss, A.L.2    Bryan, R.N.3
  • 5
    • 0035208999 scopus 로고    scopus 로고
    • Quantitative assessment of brainstem development in Joubert syndrome and Dandy-Walker syndrome
    • Maria BL, Bozorgmanesh A, Kimmel KN, et al: Quantitative assessment of brainstem development in Joubert syndrome and Dandy-Walker syndrome. J Child Neurol 2001;16:751-758.
    • (2001) J. Child Neurol. , vol.16 , pp. 751-758
    • Maria, B.L.1    Bozorgmanesh, A.2    Kimmel, K.N.3
  • 7
    • 0029065522 scopus 로고
    • Polygraphic findings in young infants with Joubert's syndrome
    • Schluter B, Buschatz D, Trowitzsch E, et al: Polygraphic findings in young infants with Joubert's syndrome. J Sleep Res 1995;4(Suppl 1):197-202.
    • (1995) J. Sleep Res. , vol.4 , Issue.SUPPL. 1 , pp. 197-202
    • Schluter, B.1    Buschatz, D.2    Trowitzsch, E.3
  • 8
    • 0032946767 scopus 로고    scopus 로고
    • Joubert's syndrome: New cases and review of clinicopathologic correlation
    • Sztriha L, Al-Gazali LI, Aithala GR, Nork M: Joubert's syndrome: New cases and review of clinicopathologic correlation. Pediatr Neurol 1999;20:274-281.
    • (1999) Pediatr. Neurol. , vol.20 , pp. 274-281
    • Sztriha, L.1    Al-Gazali, L.I.2    Aithala, G.R.3    Nork, M.4
  • 9
    • 0032833614 scopus 로고    scopus 로고
    • Neuropathology of Joubert syndrome
    • Yachnis AT, Rorke LB: Neuropathology of Joubert syndrome. J Child Neurol 1999;14:655-659.
    • (1999) J. Child Neurol. , vol.14 , pp. 655-659
    • Yachnis, A.T.1    Rorke, L.B.2
  • 10
    • 0031438402 scopus 로고    scopus 로고
    • "Joubert syndrome" revisited: Key ocular motor signs with magnetic resonance imaging correlation
    • Maria BL, Hoang KB, Tusa RJ, Quisling RG, et al: "Joubert syndrome" revisited: Key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 1997;12:423-430.
    • (1997) J. Child Neurol. , vol.12 , pp. 423-430
    • Maria, B.L.1    Hoang, K.B.2    Tusa, R.J.3    Quisling, R.G.4
  • 11
    • 0032989288 scopus 로고    scopus 로고
    • Molar tooth sign in Joubert syndrome: Clinical, radiologic, and pathologic significance
    • Maria BL, Quisling RG, Rosainz LC, et al: Molar tooth sign in Joubert syndrome: Clinical, radiologic, and pathologic significance. J Child Neurol 1999;14:368-376.
    • (1999) J. Child Neurol. , vol.14 , pp. 368-376
    • Maria, B.L.1    Quisling, R.G.2    Rosainz, L.C.3
  • 12
    • 0018932864 scopus 로고
    • The Joubert syndrome associated with bilateral chorioretinal coloboma
    • Lindhout D, Barth PG, Valk J, Boen-Tan TN: The Joubert syndrome associated with bilateral chorioretinal coloboma. Eur J Pediatr 1980;134:173-176.
    • (1980) Eur. J. Pediatr. , vol.134 , pp. 173-176
    • Lindhout, D.1    Barth, P.G.2    Valk, J.3    Boen-Tan, T.N.4
  • 13
    • 0028545668 scopus 로고
    • Joubert syndrome with polydactyly and optic coloboma in two sibs
    • Kher AS, Chattopadhyay A, Divekar A, et al: Joubert syndrome with polydactyly and optic coloboma in two sibs. Indian J Pediatr 1994;61:729-732.
    • (1994) Indian J. Pediatr. , vol.61 , pp. 729-732
    • Kher, A.S.1    Chattopadhyay, A.2    Divekar, A.3
  • 14
    • 0033661463 scopus 로고    scopus 로고
    • Joubert syndrome: An affected female with bilateral colobomata
    • Dahlstrom JE, Cookman J, Jain S: Joubert syndrome: An affected female with bilateral colobomata. Pathology 2000;32:283-285.
    • (2000) Pathology , vol.32 , pp. 283-285
    • Dahlstrom, J.E.1    Cookman, J.2    Jain, S.3
  • 15
    • 0027458866 scopus 로고
    • Joubert syndrome associated with Leber amaurosis and multicystic kidneys
    • Ivarsson SA, Bjerre I, Brun A, et al: Joubert syndrome associated with Leber amaurosis and multicystic kidneys. Am J Med Genet 1993;45:542-547.
    • (1993) Am. J. Med. Genet. , vol.45 , pp. 542-547
    • Ivarsson, S.A.1    Bjerre, I.2    Brun, A.3
  • 16
    • 18844462842 scopus 로고
    • Association of Joubert's syndrome with Leber's congenital amaurosis
    • King MD, Stephenson JB: Association of Joubert's syndrome with Leber's congenital amaurosis. Arch Neurol 1984;41:1235.
    • (1984) Arch. Neurol. , vol.41 , pp. 1235
    • King, M.D.1    Stephenson, J.B.2
  • 17
    • 0021149532 scopus 로고
    • Joubert's syndrome with retinal dysplasia: Neonatal tachypnoea as the clue to a genetic brain-eye malformation
    • King MD, Dudgeon J, Stephenson JB: Joubert's syndrome with retinal dysplasia: Neonatal tachypnoea as the clue to a genetic brain-eye malformation. Arch Dis Child 1984;59:709-718.
    • (1984) Arch. Dis. Child , vol.59 , pp. 709-718
    • King, M.D.1    Dudgeon, J.2    Stephenson, J.B.3
  • 18
    • 0022895376 scopus 로고
    • Joubert syndrome associated with unilateral ptosis and Leber congenital amaurosis
    • Houdou S, Ohno K, Takashima S, Takeshita K: Joubert syndrome associated with unilateral ptosis and Leber congenital amaurosis. Pediatr Neurol 1986;2:102-105.
    • (1986) Pediatr. Neurol. , vol.2 , pp. 102-105
    • Houdou, S.1    Ohno, K.2    Takashima, S.3    Takeshita, K.4
  • 19
    • 0030664061 scopus 로고    scopus 로고
    • Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis
    • Silverstein DM, Zacharowicz L, Edelman M, et al: Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis. Pediatr Nephrol 1997;11:746-749.
    • (1997) Pediatr. Nephrol. , vol.11 , pp. 746-749
    • Silverstein, D.M.1    Zacharowicz, L.2    Edelman, M.3
  • 20
    • 0033615477 scopus 로고    scopus 로고
    • Cerebello-oculo-renal syndromes including Arima, Senior-Loken and COACH syndromes: More than just variants of Joubert syndrome
    • Satran D, Pierpont ME, Dobyns WB: Cerebello-oculo-renal syndromes including Arima, Senior-Loken and COACH syndromes: More than just variants of Joubert syndrome. Am J Med Genet 1999;86:459-469.
    • (1999) Am. J. Med. Genet. , vol.86 , pp. 459-469
    • Satran, D.1    Pierpont, M.E.2    Dobyns, W.B.3
  • 21
    • 0035210747 scopus 로고    scopus 로고
    • Late onset of renal disease in nephronophthisis with features of Joubert syndrome type B
    • Apostolou T, Nikolopoulou N, Theodoridis M, et al: Late onset of renal disease in nephronophthisis with features of Joubert syndrome type B. Nephrol Dial Transplant 2001;16:2412-2415.
    • (2001) Nephrol. Dial. Transplant. , vol.16 , pp. 2412-2415
    • Apostolou, T.1    Nikolopoulou, N.2    Theodoridis, M.3
  • 23
    • 0033392874 scopus 로고    scopus 로고
    • Prenatal diagnosis of Joubert syndrome complicated with encephalocele using two-dimensional and three-dimensional ultrasound
    • Wang P, Chang FM, Chang CH, et al: Prenatal diagnosis of Joubert syndrome complicated with encephalocele using two-dimensional and three-dimensional ultrasound. Ultrasound Obstet Gynecol 1999;14:360-362.
    • (1999) Ultrasound Obstet. Gynecol. , vol.14 , pp. 360-362
    • Wang, P.1    Chang, F.M.2    Chang, C.H.3
  • 24
    • 2342421627 scopus 로고    scopus 로고
    • Joubert syndrome: Monozygotic twins with discordant phenotypes
    • Raynes HR, Shanske A, Goldberg S, et al: Joubert syndrome: Monozygotic twins with discordant phenotypes. J Child Neurol 1999;14649-654.
    • (1999) J. Child Neurol. , pp. 14649-14654
    • Raynes, H.R.1    Shanske, A.2    Goldberg, S.3
  • 25
    • 0002445151 scopus 로고    scopus 로고
    • Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B
    • APN Study Group. Arbeitsgemeinschaft fur Padiatrische Nephrologie
    • Hildebrandt F, Nothwang HG, Vossmerbaumer U, et al: Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B. APN Study Group. Arbeitsgemeinschaft fur Padiatrische Nephrologie. Pediatr Nephrol 1998;12:16-19.
    • (1998) Pediatr. Nephrol. , vol.12 , pp. 16-19
    • Hildebrandt, F.1    Nothwang, H.G.2    Vossmerbaumer, U.3
  • 26
    • 0032124977 scopus 로고    scopus 로고
    • A patient with ectodermal dysplasia, Joubert's syndrome, and brain cysts
    • Sener RN: A patient with ectodermal dysplasia, Joubert's syndrome, and brain cysts. Comput Med Imaging Graph 1998;22:349-351.
    • (1998) Comput. Med. Imaging Graph , vol.22 , pp. 349-351
    • Sener, R.N.1
  • 28
    • 0036674092 scopus 로고    scopus 로고
    • Analysis and classification of cerebellar malformations
    • Patel S, Barkovich AJ: Analysis and classification of cerebellar malformations. AJNR Am J Neuroradiol 2002;23:1074-1087.
    • (2002) AJNR Am. J. Neuroradiol. , vol.23 , pp. 1074-1087
    • Patel, S.1    Barkovich, A.J.2
  • 29
    • 0028600639 scopus 로고
    • Vermian agenesis without posterior fossa cyst
    • Adamsbaum C, Moreau V, Bulteau C, et al: Vermian agenesis without posterior fossa cyst. Pediatr Radiol 1994;24:543-546.
    • (1994) Pediatr. Radiol. , vol.24 , pp. 543-546
    • Adamsbaum, C.1    Moreau, V.2    Bulteau, C.3
  • 31
    • 0037154038 scopus 로고    scopus 로고
    • Search for genes involved in Joubert syndrome: Evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1
    • Blair IP, Gibson RR, Bennett CL, Chance PF: Search for genes involved in Joubert syndrome: Evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1. Am J Med Genet 2002;107:190-196.
    • (2002) Am. J. Med. Genet. , vol.107 , pp. 190-196
    • Blair, I.P.1    Gibson, R.R.2    Bennett, C.L.3    Chance, P.F.4
  • 32
    • 0032865035 scopus 로고    scopus 로고
    • Clinical nosologic and genetic aspects of Joubert and related syndromes
    • Chance PF, Cavalier L, Satran D, et al: Clinical nosologic and genetic aspects of Joubert and related syndromes. J Child Neurol 1999;14:660-666.
    • (1999) J. Child Neurol. , vol.14 , pp. 660-666
    • Chance, P.F.1    Cavalier, L.2    Satran, D.3
  • 33
    • 17344377996 scopus 로고    scopus 로고
    • Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS
    • Bulfone A, Menguzzato E, Broccoli V, et al: Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS. Hum Mol Genet 2000;9:1443-1452.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1443-1452
    • Bulfone, A.1    Menguzzato, E.2    Broccoli, V.3
  • 36
    • 0018842609 scopus 로고
    • Interhemispheric cyst of neuroepithelial origin in association with partial agenesis of the corpus callosum. Case report and review of the literature
    • Solt LC, Deck JH, Baim RS, TerBrugge K: Interhemispheric cyst of neuroepithelial origin in association with partial agenesis of the corpus callosum. Case report and review of the literature. J Neurosurg 1980;52:399-403.
    • (1980) J. Neurosurg. , vol.52 , pp. 399-403
    • Solt, L.C.1    Deck, J.H.2    Baim, R.S.3    TerBrugge, K.4
  • 37
    • 0345580677 scopus 로고    scopus 로고
    • Rare occurrence of intracerebellar colloid cyst. Case report
    • Muller A, Buttner A, Weis S: Rare occurrence of intracerebellar colloid cyst. Case report. J Neurosurg 1999;91:128-131.
    • (1999) J. Neurosurg. , vol.91 , pp. 128-131
    • Muller, A.1    Buttner, A.2    Weis, S.3
  • 38
    • 0028963032 scopus 로고
    • Do the suprasellar neurenteric cyst, the Rathke cleft cyst and the colloid cyst constitute a same entity?
    • Graziani N, Dufour H, Figarella-Branger D, et al: Do the suprasellar neurenteric cyst, the Rathke cleft cyst and the colloid cyst constitute a same entity? Acta Neurochir (Wien) 1995;133:174-180.
    • (1995) Acta Neurochir. (Wien) , vol.133 , pp. 174-180
    • Graziani, N.1    Dufour, H.2    Figarella-Branger, D.3
  • 39
    • 0034874609 scopus 로고    scopus 로고
    • Intrapontomesencephalic colloid cyst: An unusual location. Case report
    • Inci S, Al-Rousan N, Soylemezoglu F, Gurcay O: Intrapontomesencephalic colloid cyst: An unusual location. Case report. J Neurosurg 2001;94:118-121.
    • (2001) J. Neurosurg. , vol.94 , pp. 118-121
    • Inci, S.1    Al-Rousan, N.2    Soylemezoglu, F.3    Gurcay, O.4
  • 40
    • 0023192239 scopus 로고
    • Neuroepithelial cyst in the optic nerve. Case report
    • Isla A, Palacios J, Roda JM, et al: Neuroepithelial cyst in the optic nerve. Case report. J Neurosurg 1987;67:137-139.
    • (1987) J. Neurosurg. , vol.67 , pp. 137-139
    • Isla, A.1    Palacios, J.2    Roda, J.M.3
  • 41
    • 0021243826 scopus 로고
    • Asymptomatic encephalic intraparenchymatous neuroepithelial cysts
    • Gherardi R, Lacombe MJ, Poirier J, et al: Asymptomatic encephalic intraparenchymatous neuroepithelial cysts. Acta Neuropathol (Berl) 1984;63:264-268.
    • (1984) Acta Neuropathol. (Berl) , vol.63 , pp. 264-268
    • Gherardi, R.1    Lacombe, M.J.2    Poirier, J.3
  • 42
    • 0002227861 scopus 로고    scopus 로고
    • Juvenile nephronophthisis
    • Barrat TM, Avner ED, Harmon WE (eds): Baltimore, Lippincott Williams & Wilkins
    • Hildebrandt F: Juvenile nephronophthisis, in Barrat TM, Avner ED, Harmon WE (eds): Pediatric Nephrology. Baltimore, Lippincott Williams & Wilkins, 1999, 453-458.
    • (1999) Pediatric Nephrology , pp. 453-458
    • Hildebrandt, F.1


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