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Volumn 27, Issue 2, 2010, Pages 181-187

Two cases of pontocerebellar hypoplasia: Ethical and prenatal diagnostic dilemma

Author keywords

Ethical dilemma; Pontocerebellar hypoplasia; Prenatal diagnosis

Indexed keywords

DIAZEPAM;

EID: 76249108617     PISSN: 07351631     EISSN: 10988785     Source Type: Journal    
DOI: 10.1055/s-0029-1234030     Document Type: Article
Times cited : (5)

References (20)
  • 1
    • 0027771377 scopus 로고
    • Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset
    • Barth P G. Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev 1993 15 411-422
    • (1993) Brain Dev , vol.15 , pp. 411-422
    • Barth, P.G.1
  • 2
    • 0030959921 scopus 로고    scopus 로고
    • A syndrome of autosomal recessive pontocerebellar hypoplasia with white matter abnormalities and protracted course in two brothers
    • Malandrini A, Palmeri S, Villanova M et al. A syndrome of autosomal recessive pontocerebellar hypoplasia with white matter abnormalities and protracted course in two brothers. Brain Dev 1997 19 209-211
    • (1997) Brain Dev , vol.19 , pp. 209-211
    • Malandrini, A.1    Palmeri, S.2    Villanova, M.3
  • 3
    • 0032965371 scopus 로고    scopus 로고
    • Prenatal diagnosis of fatal infantile olivopontocerebellar hypoplasia syndrome
    • Mitra A, Salvino A, Spence J. Prenatal diagnosis of fatal infantile olivopontocerebellar hypoplasia syndrome. Prenat Diagn 1999 19 375-378
    • (1999) Prenat Diagn , vol.19 , pp. 375-378
    • Mitra, A.1    Salvino, A.2    Spence, J.3
  • 4
    • 0030767012 scopus 로고    scopus 로고
    • Pontocerebellar hypoplasia with microcephaly and dyskinesia: Report of two cases
    • Barbot C, Carneiro G, Melo J. Pontocerebellar hypoplasia with microcephaly and dyskinesia: report of two cases. Dev Med Child Neurol 1997 39 554-557
    • (1997) Dev Med Child Neurol , vol.39 , pp. 554-557
    • Barbot, C.1    Carneiro, G.2    Melo, J.3
  • 5
    • 0027419104 scopus 로고
    • Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and micrencephaly. Report of three siblings
    • Albrecht S, Schneider M C., Belmont J, Armstrong D L. Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and micrencephaly. Report of three siblings. Acta Neuropathol 1993 85 394-399
    • (1993) Acta Neuropathol , vol.85 , pp. 394-399
    • Albrecht, S.1    Schneider, M.C.2    Belmont, J.3    Armstrong, D.L.4
  • 6
    • 35348983348 scopus 로고    scopus 로고
    • Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia
    • Edvardson S, Shaag A, Kolesnikova O et al. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am J Hum Genet 2007 81 857-862
    • (2007) Am J Hum Genet , vol.81 , pp. 857-862
    • Edvardson, S.1    Shaag, A.2    Kolesnikova, O.3
  • 7
    • 0038137184 scopus 로고    scopus 로고
    • A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21
    • Rajab A, Mochida G H., Hill A et al. A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. Neurology 2003 60 1664-1667
    • (2003) Neurology , vol.60 , pp. 1664-1667
    • Rajab, A.1    Mochida, G.H.2    Hill, A.3
  • 8
    • 50449096432 scopus 로고    scopus 로고
    • TRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
    • Budde B S., Namavar Y, Barth P G. et al. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet 2008 40 1113-1118
    • (2008) Nat Genet , vol.40 , pp. 1113-1118
    • Budde, B.S.1    Namavar, Y.2    Barth, P.G.3
  • 9
    • 0029845651 scopus 로고    scopus 로고
    • Congenital pontocerebellar atrophy in three patients: Clinical, radiologic and etiologic considerations
    • Zelnik N, Dobyns W B., Forem S L., Kolodny E H. Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations. Neuroradiology 1996 38 684-687
    • (1996) Neuroradiology , vol.38 , pp. 684-687
    • Zelnik, N.1    Dobyns, W.B.2    Forem, S.L.3    Kolodny, E.H.4
  • 10
    • 0030861203 scopus 로고    scopus 로고
    • Genetic disorders and cerebellar structural abnormalities in childhood
    • Ramaekers V T., Heimann G, Reul J, Thron A, Jaeken J. Genetic disorders and cerebellar structural abnormalities in childhood. Brain 1997 120 (Pt 10) 1739-1751
    • (1997) Brain , vol.120 , Issue.PART 10 , pp. 1739-1751
    • Ramaekers, V.T.1    Heimann, G.2    Reul, J.3    Thron, A.4    Jaeken, J.5
  • 11
    • 43149108450 scopus 로고    scopus 로고
    • Disrupted cerebellar development in preterm infants is associated with impaired neurodevelopmental outcome
    • Messerschmidt A, Fuiko R, Prayer D et al. Disrupted cerebellar development in preterm infants is associated with impaired neurodevelopmental outcome. Eur J Pediatr 2008 167 1141-1147
    • (2008) Eur J Pediatr , vol.167 , pp. 1141-1147
    • Messerschmidt, A.1    Fuiko, R.2    Prayer, D.3
  • 12
    • 53249123273 scopus 로고    scopus 로고
    • Preterm birth and disruptive cerebellar development: Assessment of perinatal risk factors
    • Messerschmidt A, Prayer D, Brugger P C. et al. Preterm birth and disruptive cerebellar development: assessment of perinatal risk factors. Eur J Paediatr Neurol 2008 12 455-460
    • (2008) Eur J Paediatr Neurol , vol.12 , pp. 455-460
    • Messerschmidt, A.1    Prayer, D.2    Brugger, P.C.3
  • 13
    • 2142825062 scopus 로고    scopus 로고
    • Cerebellum-small brain but large confusion: A review of selected cerebellar malformations and disruptions
    • Boltshauser E. Cerebellum-small brain but large confusion: a review of selected cerebellar malformations and disruptions. Am J Med Genet A 2004 126A 376-385
    • (2004) Am J Med Genet A , vol.126 , pp. 376-385
    • Boltshauser, E.1
  • 14
    • 33644861122 scopus 로고    scopus 로고
    • Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?
    • Patel M S., Becker L E., Toi A, Armstrong D L., Chitayat D. Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5? Am J Med Genet A 2006 140 594-603
    • (2006) Am J Med Genet A , vol.140 , pp. 594-603
    • Patel, M.S.1    Becker, L.E.2    Toi, A.3    Armstrong, D.L.4    Chitayat, D.5
  • 15
    • 0036249763 scopus 로고    scopus 로고
    • Pontocerebellar hypoplasia type 2: Further clinical characterization and evidence of positive response of dyskinesia to levodopa
    • Grosso S, Mostadini R, Cioni M, Galluzzi P, Morgese G, Balestri P. Pontocerebellar hypoplasia type 2: further clinical characterization and evidence of positive response of dyskinesia to levodopa. J Neurol 2002 249 596-600
    • (2002) J Neurol , vol.249 , pp. 596-600
    • Grosso, S.1    Mostadini, R.2    Cioni, M.3    Galluzzi, P.4    Morgese, G.5    Balestri, P.6
  • 16
    • 0017687503 scopus 로고
    • Anterior horn cell disease associated with pontocerebellar hypoplasia in infants
    • Goutières F, Aicardi J, Farkas E. Anterior horn cell disease associated with pontocerebellar hypoplasia in infants. J Neurol Neurosurg Psychiatry 1977 40 370-378
    • (1977) J Neurol Neurosurg Psychiatry , vol.40 , pp. 370-378
    • Goutières, F.1    Aicardi, J.2    Farkas, E.3
  • 18
    • 34247164493 scopus 로고    scopus 로고
    • Pontocerebellar hypoplasia type 2: Variability in clinical and imaging findings
    • Steinlin M, Klein A, Haas-Lude K et al. Pontocerebellar hypoplasia type 2: variability in clinical and imaging findings. Eur J Paediatr Neurol 2007 11 146-152
    • (2007) Eur J Paediatr Neurol , vol.11 , pp. 146-152
    • Steinlin, M.1    Klein, A.2    Haas-Lude, K.3
  • 19
    • 0242593779 scopus 로고    scopus 로고
    • Fetal transcerebellar diameter nomogram in singleton gestations with special emphasis in the third trimester: A comparison with previously published nomograms
    • Chavez M R., Ananth C V., Smulian J C., Lashley S, Kontopoulos E V., Vintzileos A M. Fetal transcerebellar diameter nomogram in singleton gestations with special emphasis in the third trimester: a comparison with previously published nomograms. Am J Obstet Gynecol 2003 189 1021-1025
    • (2003) Am J Obstet Gynecol , vol.189 , pp. 1021-1025
    • Chavez, M.R.1    Ananth, C.V.2    Smulian, J.C.3    Lashley, S.4    Kontopoulos, E.V.5    Vintzileos, A.M.6
  • 20
    • 33344460885 scopus 로고    scopus 로고
    • Early fatal pontocerebellar hypoplasia with simplified cerebral gyration and pseudolissencephaly. A neuroradiological pitfall
    • Hoffmann A, Weber P, Fallet-Bianco C, Radu E W., Probst A. Early fatal pontocerebellar hypoplasia with simplified cerebral gyration and pseudolissencephaly. A neuroradiological pitfall. Fetal Diagn Ther 2006 21 161-167
    • (2006) Fetal Diagn Ther , vol.21 , pp. 161-167
    • Hoffmann, A.1    Weber, P.2    Fallet-Bianco, C.3    Radu, E.W.4    Probst, A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.