메뉴 건너뛰기




Volumn 10, Issue 1, 2012, Pages 25-29

Novel neurodevelopmental disorder in the case of a giant occipitoparietal meningoencephalocele: Case report

Author keywords

Congenital defect; Encephalocele; Genetics; Surgical repair; Syndrome

Indexed keywords

AORTA COARCTATION; ARTICLE; BRAIN MALFORMATION; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; CHROMOSOME 2P; CHROMOSOME DUPLICATION; CLEFT LIP PALATE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GENE MUTATION; GIANT OCCIPITOPARIATAL MENINGOENCEPHALOCELE; HUMAN; MALE; MICROARRAY ANALYSIS; NEUROLOGIC DISEASE; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATENT DUCTUS ARTERIOSUS; PRIORITY JOURNAL;

EID: 84863443086     PISSN: 19330707     EISSN: 19330715     Source Type: Journal    
DOI: 10.3171/2012.3.PEDS11559     Document Type: Article
Times cited : (10)

References (32)
  • 2
    • 0035194614 scopus 로고    scopus 로고
    • Atretic cephalocele communicating with lateral ventricles
    • Aydin MD: Atretic cephalocele communicating with lateral ventricles. Child's Nerv Syst 17:679-680, 2001
    • (2001) Child's Nerv Syst , vol.17 , pp. 679-680
    • Aydin, M.D.1
  • 4
    • 33745619598 scopus 로고    scopus 로고
    • Autosomal dominant atretic cephalocele with phenotype variability: Report of a Brazilian family with six affected in four generations
    • DOI 10.1002/ajmg.a.31255
    • Carvalho DR, Giuliani LR, Simão GN, Santos AC, Pina-Neto JM: Autosomal dominant atretic cephalocele with phenotype variability: report of a Brazilian family with six affected in four generations. Am J Med Genet A 140:1458-1462, 2006 (Pubitemid 43993138)
    • (2006) American Journal of Medical Genetics, Part A , vol.140 , Issue.13 , pp. 1458-1462
    • Carvalho, D.R.1    Giuliani, L.R.2    Simao, G.N.3    Santos, A.C.4    Pina-Neto, J.M.5
  • 5
    • 38349087599 scopus 로고    scopus 로고
    • Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome
    • Cotarelo RP, Valero MC, Prados B, Peña A, Rodríguez L, Fano O, et al: Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. Clin Genet 73:139-145, 2008
    • (2008) Clin Genet , vol.73 , pp. 139-145
    • Cotarelo, R.P.1    Valero, M.C.2    Prados, B.3    Peña, A.4    Rodríguez, L.5    Fano, O.6
  • 8
    • 0035891849 scopus 로고    scopus 로고
    • A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration
    • Emes RD, Ponting CP: A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration. Hum Mol Genet 10:2813-2820, 2001 (Pubitemid 34026462)
    • (2001) Human Molecular Genetics , vol.10 , Issue.24 , pp. 2813-2820
    • Emes, R.D.1    Ponting, C.P.2
  • 9
    • 0026755570 scopus 로고
    • Repair of giant occipital encephaloceles with microcephaly secondary to massive brain herniation
    • Gallo AE: Repair of giant occipital encephaloceles with microcephaly secondary to massive brain herniation. Child's Nerv Syst 8:229-230, 1992
    • (1992) Child's Nerv Syst , vol.8 , pp. 229-230
    • Gallo, A.E.1
  • 10
    • 27744562230 scopus 로고    scopus 로고
    • Novel functional features of the Lis-H domain: Role in protein dimerization, half-life and cellular localization
    • Gerlitz G, Darhin E, Giorgio G, Franco B, Reiner O: Novel functional features of the Lis-H domain: role in protein dimerization, half-life and cellular localization. Cell Cycle 4:1632-1640, 2005
    • (2005) Cell Cycle , vol.4 , pp. 1632-1640
    • Gerlitz, G.1    Darhin, E.2    Giorgio, G.3    Franco, B.4    Reiner, O.5
  • 12
  • 13
    • 0030203547 scopus 로고    scopus 로고
    • Atretic encephalocele/myelocele - Case reports with emphasis on pathogenesis
    • Hong EK, Kim NH, Lee JD: Atretic encephalocele/myelocele - case reports with emphasis on pathogenesis. J Korean Med Sci 11:364-368, 1996
    • (1996) J Korean Med Sci , vol.11 , pp. 364-368
    • Hong, E.K.1    Kim, N.H.2    Lee, J.D.3
  • 14
    • 84858289658 scopus 로고    scopus 로고
    • Atretic parietal cephalocele associated with sinus pericranii: Embryological consideration
    • Hsu SW, Chaloupka JC: Atretic parietal cephalocele associated with sinus pericranii: embryological consideration. Brain Dev:325-328, 2012
    • (2012) Brain Dev , pp. 325-328
    • Hsu, S.W.1    Chaloupka, J.C.2
  • 16
    • 42349107834 scopus 로고    scopus 로고
    • Diagnosis and management of large occipitocervical cephaloceles: A 10-year experience
    • DOI 10.1159/000120149
    • Kotil K, Kilinc B, Bilge T: Diagnosis and management of large occipitocervical cephaloceles: a 10-year experience. Pediatr Neurosurg 44:193-198, 2008 (Pubitemid 351555869)
    • (2008) Pediatric Neurosurgery , vol.44 , Issue.3 , pp. 193-198
    • Kotil, K.1    Kilinc, B.2    Bilge, T.3
  • 17
    • 0024294208 scopus 로고
    • Neural tube defects
    • Lemire RJ: Neural tube defects. JAMA 259:558-562, 1988
    • (1988) JAMA , vol.259 , pp. 558-562
    • Lemire, R.J.1
  • 19
    • 79951829447 scopus 로고    scopus 로고
    • Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1
    • Lopes CA, Prosser SL, Romio L, Hirst RA, O'Callaghan C, Woolf AS, et al: Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1. J Cell Sci 124:600-612, 2011
    • (2011) J Cell Sci , vol.124 , pp. 600-612
    • Lopes, C.A.1    Prosser, S.L.2    Romio, L.3    Hirst, R.A.4    O'Callaghan, C.5    Woolf, A.S.6
  • 20
    • 80052722391 scopus 로고    scopus 로고
    • Perioperative management of children with encephalocele: An institutional experience
    • Mahajan C, Rath GP, Dash HH, Bithal PK: Perioperative management of children with encephalocele: an institutional experience. J Neurosurg Anesthesiol 23:352-356, 2011
    • (2011) J Neurosurg Anesthesiol , vol.23 , pp. 352-356
    • Mahajan, C.1    Rath, G.P.2    Dash, H.H.3    Bithal, P.K.4
  • 21
    • 0036294418 scopus 로고    scopus 로고
    • Posterior fontanelle giant encephalocele
    • DOI 10.1159/000048348
    • Mahapatra AK, Gupta PK, Dev EJ: Posterior fontanelle giant encephalocele. Pediatr Neurosurg 36:40-43, 2002 (Pubitemid 34702037)
    • (2002) Pediatric Neurosurgery , vol.36 , Issue.1 , pp. 40-43
    • Mahapatra, A.K.1    Gupta, P.K.2    Dev, E.J.3
  • 26
    • 59849088151 scopus 로고    scopus 로고
    • Detailed anatomy of intracranial venous anomalies associated with atretic parietal cephaloceles revealed by high-resolution 3D-CISS and high-field T2-weighted reversed MR images
    • Morioka T, Hashiguchi K, Samura K, Yoshida F, Miyagi Y, Yoshiura T, et al: Detailed anatomy of intracranial venous anomalies associated with atretic parietal cephaloceles revealed by high-resolution 3D-CISS and high-field T2-weighted reversed MR images. Childs Nerv Syst 25:309-315, 2009
    • (2009) Childs Nerv Syst , vol.25 , pp. 309-315
    • Morioka, T.1    Hashiguchi, K.2    Samura, K.3    Yoshida, F.4    Miyagi, Y.5    Yoshiura, T.6
  • 28
    • 79251580661 scopus 로고    scopus 로고
    • Encephalocele in Uganda: Ethnic distinctions in lesion location, endoscopic management of hydrocephalus, and survival in 110 consecutive children. Clinical article
    • Warf BC, Stagno V, Mugamba J: Encephalocele in Uganda: ethnic distinctions in lesion location, endoscopic management of hydrocephalus, and survival in 110 consecutive children. Clinical article. J Neurosurg Pediatr 7:88-93, 2011
    • (2011) J Neurosurg Pediatr , vol.7 , pp. 88-93
    • Warf, B.C.1    Stagno, V.2    Mugamba, J.3
  • 29
    • 0020540825 scopus 로고
    • Warburg syndrome: Lethal neurodysplasia with autosomal recessive inheritance
    • Whitley CB, Thompson TR, Mastri AR, Gorlin RJ: Warburg syndrome: lethal neurodysplasia with autosomal recessive inheritance. J Pediatr 102:547-551, 1983 (Pubitemid 13114860)
    • (1983) Journal of Pediatrics , vol.102 , Issue.4 , pp. 547-551
    • Whitly, C.B.1    Thompson, T.R.2    Mastri, A.R.3    Gorlin, R.J.4
  • 30
    • 0035198342 scopus 로고    scopus 로고
    • Atretic cephalocele - Report of two cases with special reference to embryology
    • DOI 10.1007/s003810100466
    • Yamazaki T, Enomoto T, Iguchi M, Nose T: Atretic cephalocele - report of two cases with special reference to embryology. Child Nerv Syst 17:674-678, 2001 (Pubitemid 33123257)
    • (2001) Child's Nervous System , vol.17 , Issue.11 , pp. 674-678
    • Yamazaki, T.1    Enomoto, T.2    Iguchi, M.3    Nose, T.4
  • 31
    • 0023737148 scopus 로고
    • Parietal cephalocele: Clinical importance of its atretic form and associated malformations
    • Yokota A, Kajiwara H, Kohchi M, Fuwa I, Wada H: Parietal cephalocele: clinical importance of its atretic form and associated malformations. J Neurosurg 69:545-551, 1988
    • (1988) J Neurosurg , vol.69 , pp. 545-551
    • Yokota, A.1    Kajiwara, H.2    Kohchi, M.3    Fuwa, I.4    Wada, H.5
  • 32


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.