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Volumn 59, Issue 3, 2007, Pages 141-146

Present-day importance of the velocardiofacial syndrome: To commemorate the late Prof. Eva Sedláčková, MD, on the 50th Anniversary of her original publication

Author keywords

22q11.2 deletion syndrome; Sedl kov syndrome; Shprintzen syndrome; Velocardiofacial syndrome; Velofacial hypoplasia

Indexed keywords

CHROMOSOME 22Q; CHROMOSOME DELETION; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC RISK; GENETIC SCREENING; HUMAN; LANGUAGE DISABILITY; LARYNX DISORDER; MENTAL DEFICIENCY; PATHOGENESIS; PRIORITY JOURNAL; PSYCHOSIS; REVIEW; SPEECH DISORDER; VELOCARDIOFACIAL SYNDROME;

EID: 34250195020     PISSN: 10217762     EISSN: None     Source Type: Journal    
DOI: 10.1159/000101772     Document Type: Review
Times cited : (3)

References (76)
  • 1
    • 0000320475 scopus 로고
    • Velopharyngeal insufficiency as developmental disturbance (in Czech)
    • Sedláčková E: Velopharyngeal insufficiency as developmental disturbance (in Czech). Čas Lék Čes 1955;94:1304-1307.
    • (1955) Čas Lék Čes , vol.94 , pp. 1304-1307
    • Sedláčková, E.1
  • 7
    • 33645460746 scopus 로고
    • Zur Veluminsuffizienz und ihrer Therapie
    • Grimm G, Reichenbach E: Zur Veluminsuffizienz und ihrer Therapie. Zbl Chir 1960;18:1033-1041.
    • (1960) Zbl Chir , vol.18 , pp. 1033-1041
    • Grimm, G.1    Reichenbach, E.2
  • 9
    • 33645452387 scopus 로고    scopus 로고
    • Sedláčková E, Vrtička K: Speech development in children with congenital defects of the palate (in Czech). Čs Pediatr 1964;19:239-242.
    • Sedláčková E, Vrtička K: Speech development in children with congenital defects of the palate (in Czech). Čs Pediatr 1964;19:239-242.
  • 10
    • 0014183309 scopus 로고
    • The syndrome of the congenitally shortened velum. The dual innervation of the soft palate
    • Sedláčková E: The syndrome of the congenitally shortened velum. The dual innervation of the soft palate. Folia Phoniat 1967;19:441-450.
    • (1967) Folia Phoniat , vol.19 , pp. 441-450
    • Sedláčková, E.1
  • 11
    • 0015720078 scopus 로고
    • Contribution to knowledge of soft palate innervation
    • Sedláčková E, Lašt'ovka M, Šram F: Contribution to knowledge of soft palate innervation. Folia Phoniatr 1973;25:434-441.
    • (1973) Folia Phoniatr , vol.25 , pp. 434-441
    • Sedláčková, E.1    Lašt'ovka, M.2    Šram, F.3
  • 12
    • 34250159984 scopus 로고    scopus 로고
    • Hirschberg J, Szabó S, Meixner I: Beziehungen zwischen Rhinophonie und Oligophrenie bei Kindern. Proc 14 Congr Int Ass Logop Phoniatr, Paris 1970, pp 26-30.
    • Hirschberg J, Szabó S, Meixner I: Beziehungen zwischen Rhinophonie und Oligophrenie bei Kindern. Proc 14 Congr Int Ass Logop Phoniatr, Paris 1970, pp 26-30.
  • 13
    • 34250184814 scopus 로고    scopus 로고
    • Szabó S, Rehák G, Hirschberg J: Phoniatrische und kieferorthopädische Untersuchungen in Fällen mit kongenital verkürztem Gaumensegel. Proc 16 Congr Int Ass Logop Phoniat, Interlaken 1974, pp 478-482.
    • Szabó S, Rehák G, Hirschberg J: Phoniatrische und kieferorthopädische Untersuchungen in Fällen mit kongenital verkürztem Gaumensegel. Proc 16 Congr Int Ass Logop Phoniat, Interlaken 1974, pp 478-482.
  • 14
    • 0016814061 scopus 로고
    • Bronchus anomalies associated with Sedláčková syndrome
    • Loós T, Mártha I: Bronchus anomalies associated with Sedláčková syndrome. Folia Phoniatr 1975;21:128-132.
    • (1975) Folia Phoniatr , vol.21 , pp. 128-132
    • Loós, T.1    Mártha, I.2
  • 15
    • 0004861223 scopus 로고
    • Angeborene Verkürzung des Gaumensegels
    • Vrtička K, Graf K, Hürlimann A: Angeborene Verkürzung des Gaumensegels. ORL 1977;39:39.
    • (1977) ORL , vol.39 , pp. 39
    • Vrtička, K.1    Graf, K.2    Hürlimann, A.3
  • 16
    • 0014384341 scopus 로고
    • Familial syndrome of the right-sided aortic arch, mental deficiency, and facial dysmorphism
    • Strong WB: Familial syndrome of the right-sided aortic arch, mental deficiency, and facial dysmorphism. J Pediatr 1968;73:882-888.
    • (1968) J Pediatr , vol.73 , pp. 882-888
    • Strong, W.B.1
  • 17
    • 0015093439 scopus 로고
    • Congenital large pharynx
    • Calnan JS: Congenital large pharynx. Br J Plast Surg 1971;24:263-271.
    • (1971) Br J Plast Surg , vol.24 , pp. 263-271
    • Calnan, J.S.1
  • 18
    • 0017664773 scopus 로고    scopus 로고
    • Stern AM, et al: An association of aorticotruncoconal abnormalities, velopalative incompetence and unusual spine fusion. Birth Defects 1977;13(3B):259.
    • Stern AM, et al: An association of aorticotruncoconal abnormalities, velopalative incompetence and unusual spine fusion. Birth Defects 1977;13(3B):259.
  • 19
    • 0015154179 scopus 로고
    • Submucous cleft palate and its participation in the developmental shortened palate syndrome (in Czech)
    • Fára M, Hrivnáková J, Sedláč ková E: Submucous cleft palate and its participation in the developmental shortened palate syndrome (in Czech). Rozhl Chir 1971;50:555-564.
    • (1971) Rozhl Chir , vol.50 , pp. 555-564
    • Fára, M.1    Hrivnáková, J.2    Sedláč ková, E.3
  • 21
    • 0017821181 scopus 로고
    • A new syndrome involving cleft palate, cardiac anomalies, typical facies and learning disabilities: Velo-cardio-facial syndrome
    • Shprintzen RJ, Goldberg RB, Lewin ML, Sidoti EJ, Berkman MD, Argamaso RV, Young D: A new syndrome involving cleft palate, cardiac anomalies, typical facies and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J 1978;15:56-62.
    • (1978) Cleft Palate J , vol.15 , pp. 56-62
    • Shprintzen, R.J.1    Goldberg, R.B.2    Lewin, M.L.3    Sidoti, E.J.4    Berkman, M.D.5    Argamaso, R.V.6    Young, D.7
  • 22
    • 21744441327 scopus 로고    scopus 로고
    • Velo-cardio-facial syndrome
    • Shprintzen RJ: Velo-cardio-facial syndrome. Progr Pediatr Cardiol 2005;20:187-193.
    • (2005) Progr Pediatr Cardiol , vol.20 , pp. 187-193
    • Shprintzen, R.J.1
  • 23
    • 0019352243 scopus 로고
    • The velo-cardio-facial syndrome: A clinical and genetic analysis
    • Shprintzen RJ, Goldberg RB, Young D, Wolford L: The velo-cardio-facial syndrome: a clinical and genetic analysis. Pediatrics 1981;67:167-182.
    • (1981) Pediatrics , vol.67 , pp. 167-182
    • Shprintzen, R.J.1    Goldberg, R.B.2    Young, D.3    Wolford, L.4
  • 28
    • 0017031760 scopus 로고
    • In memoriam Doz. Dr. Eva Sedláčková
    • Novák A: In memoriam Doz. Dr. Eva Sedláčková. Folia Phoniatr 1976;28:378-380.
    • (1976) Folia Phoniatr , vol.28 , pp. 378-380
    • Novák, A.1
  • 30
    • 34250180338 scopus 로고    scopus 로고
    • Eastwood DS, Levet LM: By their faces shall you know them. Proc 19 Congr Int Ass Logop Phoniatr, Edinburgh 1983, pp 253-257.
    • Eastwood DS, Levet LM: By their faces shall you know them. Proc 19 Congr Int Ass Logop Phoniatr, Edinburgh 1983, pp 253-257.
  • 32
    • 0027768399 scopus 로고
    • Velocardiofacial syndrome: Analysis of phoniatric and other clinical findings
    • Haapanen ML, Somer M: Velocardiofacial syndrome: analysis of phoniatric and other clinical findings. Folia Phoniatr 1993;45:239-246.
    • (1993) Folia Phoniatr , vol.45 , pp. 239-246
    • Haapanen, M.L.1    Somer, M.2
  • 34
    • 33745120494 scopus 로고    scopus 로고
    • Introduction to genetics for otorhinolaryngology nurses
    • Malone KJ, Sheets Cook S: Introduction to genetics for otorhinolaryngology nurses. ORL Head Neck Nurs 2006;24:8-18.
    • (2006) ORL Head Neck Nurs , vol.24 , pp. 8-18
    • Malone, K.J.1    Sheets Cook, S.2
  • 35
    • 34250173965 scopus 로고    scopus 로고
    • Syndromes and Communication Disorders. San Diego, Singular
    • Shprintzen RJ: Genetics, Syndromes and Communication Disorders. San Diego, Singular, 1997, p 310.
    • (1997) Genetics , pp. 310
    • Shprintzen, R.J.1
  • 36
    • 0010743623 scopus 로고    scopus 로고
    • Historic overview of VCFS
    • Shprintzen RJ: Historic overview of VCFS. Genet Couns 1999;10:95.
    • (1999) Genet Couns , vol.10 , pp. 95
    • Shprintzen, R.J.1
  • 38
    • 22144493861 scopus 로고    scopus 로고
    • Defining the clinical spectrum of deletion 22q11.2
    • Robin NH, Shprintzen RJ: Defining the clinical spectrum of deletion 22q11.2. J Pediatr 2005;147:90-96.
    • (2005) J Pediatr , vol.147 , pp. 90-96
    • Robin, N.H.1    Shprintzen, R.J.2
  • 39
    • 0006627190 scopus 로고    scopus 로고
    • Rare phenotypes associated with the Catch 22 deletion: The Sedláčková phenotype and congenital laryngeal web
    • Fokstuen S, Artan S, Vrtička K, Schinzel A: Rare phenotypes associated with the Catch 22 deletion: the Sedláčková phenotype and congenital laryngeal web. Genet Couns 1996;7:94-95.
    • (1996) Genet Couns , vol.7 , pp. 94-95
    • Fokstuen, S.1    Artan, S.2    Vrtička, K.3    Schinzel, A.4
  • 41
    • 34250177049 scopus 로고    scopus 로고
    • Vrtička K, Fokstuen S, Da Silva V: Genetic findings in the velofacial (Sedláčková) syndrome. Proc 24 Congr Int Ass Logop Phoniatr, Amsterdam 1998, pp 579-581.
    • Vrtička K, Fokstuen S, Da Silva V: Genetic findings in the velofacial (Sedláčková) syndrome. Proc 24 Congr Int Ass Logop Phoniatr, Amsterdam 1998, pp 579-581.
  • 42
    • 0035166998 scopus 로고    scopus 로고
    • Velofacial hypoplasia (Sedláčková syndrome): A variant of velo-cardio-facial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2
    • Fokstuen S, Vrtička K, Da Silva V, Baumer A, Schinzel A: Velofacial hypoplasia (Sedláčková syndrome): a variant of velo-cardio-facial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2. Eur J Pediatr 2001;160:54-57.
    • (2001) Eur J Pediatr , vol.160 , pp. 54-57
    • Fokstuen, S.1    Vrtička, K.2    Da Silva, V.3    Baumer, A.4    Schinzel, A.5
  • 45
    • 0141483757 scopus 로고    scopus 로고
    • Das DiGeorge Syndrom/velokardiofaziale Syndrom in der Mund-, Kiefer- und Gesichtschirurgie
    • Pradel W, Bartsch O, Müller R, Lauer G, Eckelt U: Das DiGeorge Syndrom/velokardiofaziale Syndrom in der Mund-, Kiefer- und Gesichtschirurgie. HNO 2003;51:755-758.
    • (2003) HNO , vol.51 , pp. 755-758
    • Pradel, W.1    Bartsch, O.2    Müller, R.3    Lauer, G.4    Eckelt, U.5
  • 46
    • 0035019758 scopus 로고    scopus 로고
    • Genetische Aspekte bei Lippen-Kiefer-Gaumenspalten
    • Arslan-Kirchner M: Genetische Aspekte bei Lippen-Kiefer-Gaumenspalten. Sprache Stimme Gehör 2001;25:48-54.
    • (2001) Sprache Stimme Gehör , vol.25 , pp. 48-54
    • Arslan-Kirchner, M.1
  • 48
    • 4344634968 scopus 로고    scopus 로고
    • Kleine Deletion - grosse Auswirkung
    • Lüerssen K, Pruggmayer M, Ptok M: Kleine Deletion - grosse Auswirkung. HNO 2004;52:258-260.
    • (2004) HNO , vol.52 , pp. 258-260
    • Lüerssen, K.1    Pruggmayer, M.2    Ptok, M.3
  • 51
    • 0037239094 scopus 로고    scopus 로고
    • Avoiding perils and pitfalls in velocardiofacial syndrome: An otolaryngologists perspective
    • Cable BB, Mair EA: Avoiding perils and pitfalls in velocardiofacial syndrome: an otolaryngologists perspective. ENT J 2003;82:56-60.
    • (2003) ENT J , vol.82 , pp. 56-60
    • Cable, B.B.1    Mair, E.A.2
  • 56
    • 0034011429 scopus 로고    scopus 로고
    • Otolaryngological manifestations of velocardiofacial syndrome. A retrospective review of 35 patients
    • Ford LC, Sulprizio SL, Rasgon BM: Otolaryngological manifestations of velocardiofacial syndrome. A retrospective review of 35 patients. Laryngoscope 2000;110:362-367.
    • (2000) Laryngoscope , vol.110 , pp. 362-367
    • Ford, L.C.1    Sulprizio, S.L.2    Rasgon, B.M.3
  • 57
    • 0036897149 scopus 로고    scopus 로고
    • Dyce O, McDonald-McGinn D, Kirschner RE, Zackai EH, Young K, Jacobs In: Otolaryngologic manifestations of the 22q11.2 deletion syndrome. Arch Otolaryngol Head Neck Surg 2002;128:1408-1412.
    • Dyce O, McDonald-McGinn D, Kirschner RE, Zackai EH, Young K, Jacobs In: Otolaryngologic manifestations of the 22q11.2 deletion syndrome. Arch Otolaryngol Head Neck Surg 2002;128:1408-1412.
  • 58
    • 1642354765 scopus 로고    scopus 로고
    • Nonsyndromic 35delG mutation of the connexin 26 gene associated with deafness in syndromic children: Two case reports
    • Venail F, Roux AF, Pallares-Ruiz N, Claustres M, Blanchet P, Gardiner Q, Mondain M: Nonsyndromic 35delG mutation of the connexin 26 gene associated with deafness in syndromic children: two case reports. Laryngoscope 2004;114:566-569.
    • (2004) Laryngoscope , vol.114 , pp. 566-569
    • Venail, F.1    Roux, A.F.2    Pallares-Ruiz, N.3    Claustres, M.4    Blanchet, P.5    Gardiner, Q.6    Mondain, M.7
  • 60
    • 0031819164 scopus 로고    scopus 로고
    • Velocardiofacial syndrome (Shprintzen syndrome, chromosome 22q11 deletion syndrome)
    • Olney AH, Kolodziej P: Velocardiofacial syndrome (Shprintzen syndrome, chromosome 22q11 deletion syndrome). ENT J 1998;77:460-461.
    • (1998) ENT J , vol.77 , pp. 460-461
    • Olney, A.H.1    Kolodziej, P.2
  • 63
    • 1542346975 scopus 로고    scopus 로고
    • Voice and resonance disorders in genetic syndromes: A meta-analysis
    • Van Borsel JV: Voice and resonance disorders in genetic syndromes: a meta-analysis. Folia Phoniatr Logop 2004;56:83-92.
    • (2004) Folia Phoniatr Logop , vol.56 , pp. 83-92
    • Van Borsel, J.V.1
  • 66
    • 12344311144 scopus 로고    scopus 로고
    • TBX1 is required to proper neural crest migration and to stabilize patterns during middle and inner ear development
    • Moraes F, Novoa A, Jerome-Majewska LA, Papaionnou VE, Mallo M: TBX1 is required to proper neural crest migration and to stabilize patterns during middle and inner ear development. Mech Dev 2005;122:199-212.
    • (2005) Mech Dev , vol.122 , pp. 199-212
    • Moraes, F.1    Novoa, A.2    Jerome-Majewska, L.A.3    Papaionnou, V.E.4    Mallo, M.5
  • 67
    • 0032563562 scopus 로고    scopus 로고
    • Mismatch negativity (MMN) as an index of auditory sensory memory deficit in cleft-palate and CATCH syndrome children
    • Cheour M, Haapanen ML, Ceponiene R, Hukki J, Ranta R, Näätänen R: Mismatch negativity (MMN) as an index of auditory sensory memory deficit in cleft-palate and CATCH syndrome children. Neuroreport 1998;9:2709-2712.
    • (1998) Neuroreport , vol.9 , pp. 2709-2712
    • Cheour, M.1    Haapanen, M.L.2    Ceponiene, R.3    Hukki, J.4    Ranta, R.5    Näätänen, R.6
  • 68
    • 0038141057 scopus 로고    scopus 로고
    • Auditory sensory impairment in children with oral clefts as indexed by auditory event-related potentials
    • Ceponiene R, Haapanen ML, Ranta R, Näätänen R, Hukki J: Auditory sensory impairment in children with oral clefts as indexed by auditory event-related potentials. J Craniofac Surg 2002;13:554-566.
    • (2002) J Craniofac Surg , vol.13 , pp. 554-566
    • Ceponiene, R.1    Haapanen, M.L.2    Ranta, R.3    Näätänen, R.4    Hukki, J.5
  • 74
    • 33645559153 scopus 로고    scopus 로고
    • Prevalence of ADHD in children with velocardiofacial syndrome: A preliminary report
    • Zagursky K, Weller RA, Jessani N, Abbas J, Weller EB: Prevalence of ADHD in children with velocardiofacial syndrome: a preliminary report. Curr Psychiatry Rep 2006;8:102-107.
    • (2006) Curr Psychiatry Rep , vol.8 , pp. 102-107
    • Zagursky, K.1    Weller, R.A.2    Jessani, N.3    Abbas, J.4    Weller, E.B.5
  • 75
    • 0036143742 scopus 로고    scopus 로고
    • Chromosome 22q11 deletion syndrome (CATCH 22): Neuropsychiatric and neuropsychological aspects
    • Niklasson L, Rasmussen P, Óskarsdóttir S, Gillberg C: Chromosome 22q11 deletion syndrome (CATCH 22): neuropsychiatric and neuropsychological aspects. Dev Med Child Neurol 2002;44:44-50.
    • (2002) Dev Med Child Neurol , vol.44 , pp. 44-50
    • Niklasson, L.1    Rasmussen, P.2    Óskarsdóttir, S.3    Gillberg, C.4


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