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Volumn 48, Issue 6, 2011, Pages 457-466

Holoprosencephaly: A guide to diagnosis and clinical management

Author keywords

Diagnosis; Genetics; Holoprosencephaly; Management; Review

Indexed keywords

ANTICONVULSIVE AGENT; BACLOFEN; TRIHEXYPHENIDYL;

EID: 79960472990     PISSN: 00196061     EISSN: 09747559     Source Type: Journal    
DOI: 10.1007/s13312-011-0078-x     Document Type: Review
Times cited : (43)

References (46)
  • 1
    • 0024404922 scopus 로고
    • Interpretation of some median anomalies as illustrated by cyclopia and symmelia
    • DOI 10.1002/tera.1420400502
    • O'Rahilly R, Müller F. Interpretation of some median anomalies as illustrated by cyclopia and symmelia. Teratology. 1989;40:409-21. (Pubitemid 20009659)
    • (1989) Teratology , vol.40 , Issue.5 , pp. 409-421
    • O'Rahilly, R.1    Muller, F.2
  • 2
    • 0017741766 scopus 로고
    • Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases
    • Matsunaga E, Shiota K. Holoprosencephaly in human embryos: epidemiologic studies of 150 cases. Teratology. 1977;16:261-72. (Pubitemid 8236371)
    • (1977) Teratology , vol.16 , Issue.3 , pp. 261-272
    • Matsunaga, E.1    Shiota, K.2
  • 3
    • 50249169215 scopus 로고    scopus 로고
    • Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance systems: Searching for population variations
    • Leoncini E, Baranello G, Orioli IM, Annerén G, Bakker M, Bianchi F, et al. Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance systems: searching for population variations. Birth Defects Res A. 2008;82:585-91.
    • (2008) Birth Defects Res A. , vol.82 , pp. 585-591
    • Leoncini, E.1    Baranello, G.2    Orioli, I.M.3    Annerén, G.4    Bakker, M.5    Bianchi, F.6
  • 4
    • 76149115260 scopus 로고    scopus 로고
    • Epidemiology of holoprosencephaly: Prevalence and risk factors
    • Orioli IM, Castilla EE. Epidemiology of holoprosencephaly: prevalence and risk factors. Am J Med Genet C Semin Med Genet. 2010;154C:13-21.
    • (2010) Am J Med Genet C Semin Med Genet. , vol.154 C , pp. 13-21
    • Orioli, I.M.1    Castilla, E.E.2
  • 6
    • 0022751121 scopus 로고
    • Medical genetics in India
    • Verma IC. Medical genetics in India. Indian J Pediatr. 1986;53:437-40.
    • (1986) Indian J Pediatr , vol.53 , pp. 437-440
    • Verma, I.C.1
  • 7
    • 0034574375 scopus 로고    scopus 로고
    • Burden of genetic disorders in India
    • Verma IC. Burden of genetic disorders in India. Indian J Pediatr. 2000;67:893-8. (Pubitemid 33703197)
    • (2000) Indian Journal of Pediatrics , vol.67 , Issue.12 , pp. 893-898
    • Verma, I.C.1
  • 8
    • 75449134513 scopus 로고
    • Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: Clinical, electroencephalographic and nosologic considerations
    • DeMyer W, Zeman W. Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations. Confin Neurol. 1963;23:1-36.
    • (1963) Confin Neurol. , vol.23 , pp. 1-36
    • Demyer, W.1    Zeman, W.2
  • 9
    • 0027158534 scopus 로고
    • Middle interhemispheric fusion: An unusual variant of holoprosencephaly
    • Barkovich AJ, Quint DJ. Middle interhemispheric fusion: an unusual variant of holoprosencephaly. AJNR Am J Neuroradiol. 1993;14:431-40. (Pubitemid 23130145)
    • (1993) American Journal of Neuroradiology , vol.14 , Issue.2 , pp. 431-440
    • Barkovich, A.J.1    Quint, D.J.2
  • 10
    • 76149133123 scopus 로고    scopus 로고
    • Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation
    • Hahn JS, Barnes PD. Neuroimaging advances in holoprosencephaly: refining the spectrum of the midline malformation. Am J Med Genet C Semin Med Genet. 2010;154C:120-32.
    • (2010) Am J Med Genet C Semin Med Genet. , vol.154 C , pp. 120-132
    • Hahn, J.S.1    Barnes, P.D.2
  • 12
    • 84883840171 scopus 로고
    • The face predicts the brain: Diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly)
    • DeMyer W, Zeman W, Palmer CG. The face predicts the brain: diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics. 1964;34:256-63.
    • (1964) Pediatrics , vol.34 , pp. 256-263
    • Demyer, W.1    Zeman, W.2    Palmer, C.G.3
  • 14
    • 77956095780 scopus 로고    scopus 로고
    • Mutations in ZIC2 in human holoprosencephaly: Description of a novel ZIC2-specific phenotype and comprehensive analysis of 157 individuals
    • Solomon BD, Lacbawan F, Mercier S, Clegg NJ, Delgado MR, Rosenbaum K, et al. Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2-specific phenotype and comprehensive analysis of 157 individuals. J Med Genet. 2010;47:513-24.
    • (2010) J Med Genet. , vol.47 , pp. 513-524
    • Solomon, B.D.1    Lacbawan, F.2    Mercier, S.3    Clegg, N.J.4    Delgado, M.R.5    Rosenbaum, K.6
  • 16
    • 0001373955 scopus 로고    scopus 로고
    • Holoprosencephaly
    • Scriver CR, Beaudet AL, Sly WS, Valle D, editors. 8th ed. New York: McGraw-Hill
    • Muenke M, Beachy PA. Holoprosencephaly. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill;2001. p.6203-30.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 6203-6230
    • Muenke, M.1    Beachy, P.A.2
  • 17
    • 0029838858 scopus 로고    scopus 로고
    • Holoprosencephaly: Epidemiologic and clinical characteristics of a California population
    • Croen LA, Shaw GM, Lammer EJ. Holoprosencephaly: epidemiologic and clinical characteristics of a California population. Am J Med Genet. 1996;64:465-72.
    • (1996) Am J Med Genet. , vol.64 , pp. 465-472
    • Croen, L.A.1    Shaw, G.M.2    Lammer, E.J.3
  • 18
    • 0030734649 scopus 로고    scopus 로고
    • Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984-1989
    • DOI 10.1002/(SICI)1096-8628(19971212)73:2<217::AID-AJMG20>3.0.CO;2- S
    • Olsen CL, Hughes JP, Youngblood LG, Sharpe-Stimac M. Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984-1989. Am J Med Genet. 1997;73:217-26. (Pubitemid 27514735)
    • (1997) American Journal of Medical Genetics , vol.73 , Issue.2 , pp. 217-226
    • Olsen, C.L.1    Hughes, J.P.2    Youngblood, L.G.3    Sharpe-Stimac, M.4
  • 21
    • 0032732443 scopus 로고    scopus 로고
    • The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly
    • Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, de Die-Smulders C, et al. The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet. 1999;8:2479-88.
    • (1999) Hum Mol Genet. , vol.8 , pp. 2479-2488
    • Nanni, L.1    Ming, J.E.2    Bocian, M.3    Steinhaus, K.4    Bianchi, D.W.5    De Die-Smulders, C.6
  • 22
    • 73349088745 scopus 로고    scopus 로고
    • The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis
    • Roessler E, El-Jaick KB, Dubourg C, Vélez JI, Solomon BD, Pineda-Álvarez DE, et al. The mutational spectrum of holoprosencephaly- associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis. Hum Mutat. 2009;30:E921-35.
    • (2009) Hum Mutat. , vol.30
    • Roessler, E.1    El-Jaick, K.B.2    Dubourg, C.3    Vélez, J.I.4    Solomon, B.D.5    Pineda-Álvarez, D.E.6
  • 25
    • 67449132620 scopus 로고    scopus 로고
    • Clinical spectrum of SIX3-associated mutations in holoprosencephaly: Correlation between genotype, phenotype and function
    • Lacbawan F, Solomon BD, Roessler E, El-Jaick K, DomenéS, Vélez JI, et al. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. J Med Genet. 2009;46:389-98.
    • (2009) J Med Genet. , vol.46 , pp. 389-398
    • Lacbawan, F.1    Solomon, B.D.2    Roessler, E.3    El-Jaick, K.4    Domenés Vélez, J.I.5
  • 30
    • 0036844229 scopus 로고    scopus 로고
    • Multiple hits during early embryonic development: Digenic diseases and holoprosencephaly
    • DOI 10.1086/344412
    • Ming JE, Muenke M. Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am J Hum Genet. 2002;71:1017-32. (Pubitemid 35305222)
    • (2002) American Journal of Human Genetics , vol.71 , Issue.5 , pp. 1017-1032
    • Ming, J.E.1    Muenke, M.2
  • 31
    • 0033911995 scopus 로고    scopus 로고
    • Phenotypes of patients with 'Simple' mendelian disorders are complex traits: Thresholds, modifiers, and systems dynamics
    • DOI 10.1086/302938
    • Dipple KM, McCabe ERB. Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am J Hum Genet. 2000;66:1729-35. (Pubitemid 30480080)
    • (2000) American Journal of Human Genetics , vol.66 , Issue.6 , pp. 1729-1735
    • Dipple, K.M.1    McCabe, E.R.B.2
  • 32
    • 4043180520 scopus 로고    scopus 로고
    • Evaluation and management of children with holoprosencephaly
    • DOI 10.1016/j.pediatrneurol.2004.03.006, PII S0887899404001511
    • Hahn JS, Plawner LL. Evaluation and management of children with holoprosencephaly. Pediatr Neurol. 2004;31:79-88. (Pubitemid 39070183)
    • (2004) Pediatric Neurology , vol.31 , Issue.2 , pp. 79-88
    • Hahn, J.S.1    Plawner, L.L.2
  • 33
    • 17844391292 scopus 로고    scopus 로고
    • Prenatal diagnosis, phenotypic and obstetric characteristics of holoprosencephaly
    • DOI 10.1159/000083897
    • JoóGJ, Beke A, Papp C, Tóth-Pál E, Szigeti Z, Bán Z, et al. Prenatal diagnosis, phenotypic and obstetric characteristics of holoprosencephaly. Fetal Diagn Ther. 2005;20:161-6. (Pubitemid 40591541)
    • (2005) Fetal Diagnosis and Therapy , vol.20 , Issue.3 , pp. 161-166
    • Joo, G.J.1    Beke, A.2    Papp, C.3    Toth-Pal, E.4    Szigeti, Z.5    Ban, Z.6    Papp, Z.7
  • 34
    • 75649137332 scopus 로고    scopus 로고
    • Prenatal ultrasound diagnosis in 51 cases of holoprosencephaly: Craniofacial anatomy, associated malformations, and genetics
    • Wenghoefer M, Ettema AM, Sina F, Geipel A, Kuijpers- Jagtman AM, Hansmann H, et al. Prenatal ultrasound diagnosis in 51 cases of holoprosencephaly: craniofacial anatomy, associated malformations, and genetics. Cleft Palate Craniofac J. 2010;47:15-21.
    • (2010) Cleft Palate Craniofac J. , vol.47 , pp. 15-21
    • Wenghoefer, M.1    Ettema, A.M.2    Sina, F.3    Geipel, A.4    Kuijpers-Jagtman, A.M.5    Hansmann, H.6
  • 39
    • 0037044287 scopus 로고    scopus 로고
    • Neuroanatomy of holoprosencephaly as predictor of function: Beyond the face predicting the brain
    • Plawner LL, Delgado MR, Miller VS, Levey EB, Kinsman SL, Barkovich AJ, et al. Neuroanatomy of holoprosencephaly as predictor of function: beyond the face predicting the brain. Neurology. 2002;59:1058-66.
    • (2002) Neurology , vol.59 , pp. 1058-1066
    • Plawner, L.L.1    Delgado, M.R.2    Miller, V.S.3    Levey, E.B.4    Kinsman, S.L.5    Barkovich, A.J.6
  • 43
    • 71449097546 scopus 로고    scopus 로고
    • Medical genetics in India - What needs to be done?
    • Agarwal SS. Medical genetics in India - what needs to be done? Indian J Med Res. 2009;130:354-56.
    • (2009) Indian J Med Res. , vol.130 , pp. 354-356
    • Agarwal, S.S.1
  • 46
    • 59749098567 scopus 로고    scopus 로고
    • Emerging themes and new challenges in defining the role of structural variation in human disease
    • Sharp AJ. Emerging themes and new challenges in defining the role of structural variation in human disease. Hum Mutat. 2009;30:135-44.
    • (2009) Hum Mutat. , vol.30 , pp. 135-144
    • Sharp, A.J.1


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