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Volumn 57, Issue 2, 2013, Pages 49-56

Wolf-Hirschhorn syndrome. A series of 27 patients: Their epidemiological and clinical characteristics. The current situation of the patients and the opinions of their caregivers regarding the diagnostic process;Síndrome de Wolf-Hirschhorn. Serie de 27 pacientes: Características epidemiológicas y clínicas. Situación actual de los pacientes y opinión de sus cuidadores respecto al proceso diagnóstico

Author keywords

4p monosomy; 4p syndrome; Delayed intrauterine growth; Deletion; Epilepsy; Greek helmet facies; Hypogrowth; Wolf Hirschhorn

Indexed keywords

ARTICLE; CAREGIVER; CHILD; CLINICAL FEATURE; COGNITIVE DEVELOPMENT; EPILEPSY; HUMAN; PHENOTYPE; PRENATAL GROWTH; PRESCHOOL CHILD; PSYCHOMOTOR DEVELOPMENT; SCHOOL CHILD; WOLF HIRSCHHORN SYNDROME; AGE; ATROPHY; BRAIN; CHROMOSOME 4; CHROMOSOME DELETION; DELAYED DIAGNOSIS; FACIES; FACTUAL DATABASE; FEMALE; GENETICS; GROWTH DISORDER; INFANT; INTELLECTUAL IMPAIRMENT; INTRAUTERINE GROWTH RETARDATION; MALE; PATHOLOGY; QUESTIONNAIRE; SPAIN; ULTRASTRUCTURE; COMPLICATION; WOLF-HIRSCHHORN SYNDROME;

EID: 84880381327     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.5702.2013175     Document Type: Article
Times cited : (13)

References (35)
  • 1
    • 79952751562 scopus 로고    scopus 로고
    • Clinical utility gene card for: Wolf-Hirschhorn (4p-) syndrome
    • Apr 19. [Epub ahead of print]
    • Battaglia A, South S, Carey J. Clinical utility gene card for: Wolf-Hirschhorn (4p-) syndrome. Eur J Hum Genet 2011; Apr 19. [Epub ahead of print].
    • (2011) Eur J Hum Genet
    • Battaglia, A.1    South, S.2    Carey, J.3
  • 4
    • 55949113926 scopus 로고    scopus 로고
    • Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: Experience with 87 patients and recommendations for routine heath supervision
    • Battaglia A, Filippi T, Carey JC. Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine heath supervision. Am J Med Genet C Semin Med Genet 2008; 148C: 246-51.
    • (2008) Am J Med Genet C Semin Med Genet , vol.148 C , pp. 246-251
    • Battaglia, A.1    Filippi, T.2    Carey, J.C.3
  • 5
    • 0008036914 scopus 로고
    • Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion
    • Cooper H, Hirschhorn K. Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion. Mamm Chrom Newslett 1961; 4: 14.
    • (1961) Mamm Chrom Newslett , vol.4 , pp. 14
    • Cooper, H.1    Hirschhorn, K.2
  • 6
    • 55949114508 scopus 로고    scopus 로고
    • On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: Genotype-phenotype correlation analysis of 80 patients and literature review
    • Zollino M, Murdolo M, Marangi G, Pecile V, Galasso C, Mazzanti L, et al. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. Am J Med Genet C Semin Med Genet 2008; 148C: 257-69.
    • (2008) Am J Med Genet C Semin Med Genet , vol.148 C , pp. 257-269
    • Zollino, M.1    Murdolo, M.2    Marangi, G.3    Pecile, V.4    Galasso, C.5    Mazzanti, L.6
  • 7
    • 64849110443 scopus 로고    scopus 로고
    • Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome: Experience with 87 patients
    • Battaglia A, Filippi T, South ST, Carey JC. Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome: experience with 87 patients. Dev Med Child Neurol 2009; 51: 337-8.
    • (2009) Dev Med Child Neurol , vol.51 , pp. 337-338
    • Battaglia, A.1    Filippi, T.2    South, S.T.3    Carey, J.C.4
  • 9
    • 0014879750 scopus 로고
    • Partial deletion of the short arm of chromosome no. 4(4p-): Clinical studies in five unrelated patients
    • Miller OJ, Breg WR, Warburton DA, Miller DA, DeCapoa A, Allderdice PW, et al. Partial deletion of the short arm of chromosome no. 4(4p-): clinical studies in five unrelated patients. J Pediatr 1970; 77: 792-801.
    • (1970) J Pediatr , vol.77 , pp. 792-801
    • Miller, O.J.1    Breg, W.R.2    Warburton, D.A.3    Miller, D.A.4    DeCapoa, A.5    Allderdice, P.W.6
  • 10
    • 0026038832 scopus 로고
    • Epileptic seizures in the 4p-syndrome: Report of two cases
    • Kanazawa N, Kawai I. Epileptic seizures in the 4p-syndrome: report of two cases. Jpn J Psychiatry Neurol 1991; 45: 653-9.
    • (1991) Jpn J Psychiatry Neurol , vol.45 , pp. 653-659
    • Kanazawa, N.1    Kawai, I.2
  • 11
    • 84860469901 scopus 로고    scopus 로고
    • Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome
    • Kerzendorfer C, Hannes F, Colnaghi R, Abramowicz I, Carpenter G, Vermeesch JR, et al. Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome. Hum Mol Genet 2012; 21: 2181-93.
    • (2012) Hum Mol Genet , vol.21 , pp. 2181-2193
    • Kerzendorfer, C.1    Hannes, F.2    Colnaghi, R.3    Abramowicz, I.4    Carpenter, G.5    Vermeesch, J.R.6
  • 13
    • 84860237793 scopus 로고    scopus 로고
    • Developmental trajectories in syndromes with intellectual disability, with a focus on Wolf-Hirschhorn and its cognitive-behavioral profile
    • Fisch GS, Carpenter N, Howard-Peebles PN, Holden JJ, Tarleton J, Simensen R, et al. Developmental trajectories in syndromes with intellectual disability, with a focus on Wolf-Hirschhorn and its cognitive-behavioral profile. Am J Intellect Dev Disabil 2012; 117: 167-79.
    • (2012) Am J Intellect Dev Disabil , vol.117 , pp. 167-179
    • Fisch, G.S.1    Carpenter, N.2    Howard-Peebles, P.N.3    Holden, J.J.4    Tarleton, J.5    Simensen, R.6
  • 14
    • 77955116278 scopus 로고    scopus 로고
    • Impact of chromosome 4p-syndrome on communication and expressive language skills: A preliminary investigation
    • Marshall AT. Impact of chromosome 4p-syndrome on communication and expressive language skills: a preliminary investigation. Lang Speech Hear Serv Sch 2010; 41: 265-76.
    • (2010) Lang Speech Hear Serv Sch , vol.41 , pp. 265-276
    • Marshall, A.T.1
  • 15
    • 84935902591 scopus 로고
    • Wolf-Hirschhorn syndrome
    • In Pagon RA, Bird TD, Dolan CR, Stephens K, eds, Seattle: University of Washington 2002; Apr 29 [updated 2010; Jun 17]
    • Battaglia A, Carey JC, South ST, Wright TJ. Wolf-Hirschhorn syndrome. In Pagon RA, Bird TD, Dolan CR, Stephens K, eds. GeneReviews [Internet]. Seattle: University of Washington; 1993-2002; Apr 29 [updated 2010; Jun 17].
    • (1993) GeneReviews [Internet]
    • Battaglia, A.1    Carey, J.C.2    South, S.T.3    Wright, T.J.4
  • 16
    • 0037614672 scopus 로고    scopus 로고
    • A study of EEG and epilepsy profile in Wolf-Hirschhorn syndrome and considerations regarding its correlation with other chromosomal disorders
    • Valente KD, Freitas A, Fiore LA, Kim C. A study of EEG and epilepsy profile in Wolf-Hirschhorn syndrome and considerations regarding its correlation with other chromosomal disorders. Brain Dev 2003; 25: 283-7.
    • (2003) Brain Dev , vol.25 , pp. 283-287
    • Valente, K.D.1    Freitas, A.2    Fiore, L.A.3    Kim, C.4
  • 17
    • 22244457681 scopus 로고    scopus 로고
    • Seizure and EEG patterns in Wolf-Hirschhorn (4p-) syndrome
    • Battaglia A, Carey J. Seizure and EEG patterns in Wolf-Hirschhorn (4p-) syndrome. Brain Dev 2005; 27: 362-4.
    • (2005) Brain Dev , vol.27 , pp. 362-364
    • Battaglia, A.1    Carey, J.2
  • 18
    • 0036123516 scopus 로고    scopus 로고
    • Chromosomal abnormalities and epilepsy: A review for clinicians and gene hunters
    • Singh R, Gardner RJ, Crossland KM, Sheffer IE, Berkovic SF. Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters. Epilepsia 2002; 43: 127-40.
    • (2002) Epilepsia , vol.43 , pp. 127-140
    • Singh, R.1    Gardner, R.J.2    Crossland, K.M.3    Sheffer, I.E.4    Berkovic, S.F.5
  • 21
    • 84880374832 scopus 로고    scopus 로고
    • Wolf-Hirschhorn syndrome: Correlation between cytogenetics, FISH and severity of disease
    • Meloni A, Shepard RR, Battaglia A, Wright TJ, Carey JC. Wolf-Hirschhorn syndrome: correlation between cytogenetics, FISH and severity of disease. Am J Hum Genet 2008; 45: 71-80.
    • (2008) Am J Hum Genet , vol.45 , pp. 71-80
    • Meloni, A.1    Shepard, R.R.2    Battaglia, A.3    Wright, T.J.4    Carey, J.C.5
  • 22
    • 70349505798 scopus 로고    scopus 로고
    • Tethered cord, corpus callosum abnormalities and periventricular cysts in Wolf-Hirschhorn syndrome. Report of two cases and review of the literature
    • Verbrugge J, Choudhary AK, Ladda R. Tethered cord, corpus callosum abnormalities and periventricular cysts in Wolf-Hirschhorn syndrome. Report of two cases and review of the literature. Am J Med Genet A 2009; 149A: 2280-4.
    • (2009) Am J Med Genet A , vol.149 A , pp. 2280-2284
    • Verbrugge, J.1    Choudhary, A.K.2    Ladda, R.3
  • 23
    • 84857398866 scopus 로고    scopus 로고
    • Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: Report of two cases and review of the literature
    • Sifakis S, Manolakosn E, Vetro A, Kappou D, Peitsidis P, Kontodiou M, et al. Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature. Molecular Cytogenetics 2012; 5: 12.
    • (2012) Molecular Cytogenetics , vol.5 , pp. 12
    • Sifakis, S.1    Manolakosn, E.2    Vetro, A.3    Kappou, D.4    Peitsidis, P.5    Kontodiou, M.6
  • 24
    • 39149143638 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridization (CGH)
    • Maas NM, Van Buggenhout G, Hannes F, Thienpont B, Sanlaville D, Kok K, et al. Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridization (CGH). J Med Genet 2008; 45: 71-80.
    • (2008) J Med Genet , vol.45 , pp. 71-80
    • Maas, N.M.1    van Buggenhout, G.2    Hannes, F.3    Thienpont, B.4    Sanlaville, D.5    Kok, K.6
  • 26
    • 55949123047 scopus 로고    scopus 로고
    • Cognitive-behavioral features of children with Wolf-Hirschhorn syndrome: Preliminary report of 12 cases
    • Fisch GS, Battaglia A, Parrini B, Youngblom J, Simensen R. Cognitive-behavioral features of children with Wolf-Hirschhorn syndrome: preliminary report of 12 cases. Am J Med Genet 2008; 148C: 252-6.
    • (2008) Am J Med Genet , vol.148 C , pp. 252-256
    • Fisch, G.S.1    Battaglia, A.2    Parrini, B.3    Youngblom, J.4    Simensen, R.5
  • 28
    • 84880389573 scopus 로고    scopus 로고
    • Hallazgos electroencefalográficos en el síndrome de Wolf-Hirschhorn [abstract 23]. XLIX Reunión Anual de la Sociedad Española de Neurofisiología Clínica. Granada, 19-21 de octubre de 2011
    • Sánchez-Honrubia RM, Carrascosa-Romero MC, Guerrero-Solano JL, Pardal-Fernández JM, Godes-Medrano B, Rossi-Vietsky ML. Hallazgos electroencefalográficos en el síndrome de Wolf-Hirschhorn [abstract 23]. XLIX Reunión Anual de la Sociedad Española de Neurofisiología Clínica. Granada, 19-21 de octubre de 2011. Rev Neurol 2012; 55: 556-73.
    • (2012) Rev Neurol , vol.55 , pp. 556-573
    • Sánchez-Honrubia, R.M.1    Carrascosa-Romero, M.C.2    Guerrero-Solano, J.L.3    Pardal-Fernández, J.M.4    Godes-Medrano, B.5    Rossi-Vietsky, M.L.6
  • 29
    • 0033975568 scopus 로고    scopus 로고
    • Vesicoureteric reflux associated with renal dysplasia in the Wolf-Hirschhorn syndrome
    • Grisaru S, Ramage IJ, Rosenblum ND. Vesicoureteric reflux associated with renal dysplasia in the Wolf-Hirschhorn syndrome. Pediatr Nephrol 2000; 14: 146-8.
    • (2000) Pediatr Nephrol , vol.14 , pp. 146-148
    • Grisaru, S.1    Ramage, I.J.2    Rosenblum, N.D.3
  • 30
    • 0031925889 scopus 로고
    • Antibody deficiency in Wolf-Hirschhorn syndrome
    • Hanley-Lopez J, Estabrooks LL, Stiehm R. Antibody deficiency in Wolf-Hirschhorn syndrome. J Pediatr 1988; 133: 141-3.
    • (1988) J Pediatr , vol.133 , pp. 141-143
    • Hanley-Lopez, J.1    Estabrooks, L.L.2    Stiehm, R.3
  • 32
    • 38449104234 scopus 로고    scopus 로고
    • Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: Implications for critical region designation
    • South St, Bleyl SB, Carey JC. Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designation. Am J Med Genet A 2007; 143A: 2137-42.
    • (2007) Am J Med Genet A , vol.143 A , pp. 2137-2142
    • South, S.1    Bleyl, S.B.2    Carey, J.C.3
  • 33
    • 0033949022 scopus 로고    scopus 로고
    • Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: Analysis of 13 patients with a de novo deletion
    • Wieczorek D, Krause M, Majeswski F, Albrecht B, Horn D, Riess O, et al. Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion. Eur J Hum Genet 2000; 8: 519-26.
    • (2000) Eur J Hum Genet , vol.8 , pp. 519-526
    • Wieczorek, D.1    Krause, M.2    Majeswski, F.3    Albrecht, B.4    Horn, D.5    Riess, O.6
  • 34
  • 35
    • 6444232244 scopus 로고    scopus 로고
    • A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome
    • Zollino M, Lecce R, Selicorni A, Murdolo M. A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome. Eur J Hum Genet 2004; 12: 794-804.
    • (2004) Eur J Hum Genet , vol.12 , pp. 794-804
    • Zollino, M.1    Lecce, R.2    Selicorni, A.3    Murdolo, M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.