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Volumn 45, Issue 2, 1998, Pages 133-141

The velo-cardio-facial syndrome: The otorhinolaryngeal manifestations and implications

Author keywords

22q11 Deletion; Cleft palate; Shprintzen syndrome; Velo cardio facial; Velopharyngeal incompetence

Indexed keywords

ARTICLE; CHROMOSOME 22Q; CHROMOSOME DELETION; CLEFT PALATE; CLINICAL FEATURE; ENDOSCOPY; FEEDING DISORDER; FLUOROSCOPY; HEARING LOSS; HUMAN; PALATOPHARYNGEAL INCOMPETENCE; PHARYNX RECONSTRUCTION; PRIORITY JOURNAL; SKULL RADIOGRAPHY; SPEECH THERAPY; VELOCARDIOFACIAL SYNDROME;

EID: 0032476176     PISSN: 01655876     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0165-5876(98)00067-6     Document Type: Article
Times cited : (31)

References (51)
  • 1
    • 0017821181 scopus 로고
    • A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo-cardio-facial syndrome
    • Shprintzen R.J., Goldberg R.B., Lewin M.L., Sidoti E.J., Berkman M.D., Argamaso R.V., Young D. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate. 15:1978;56-62.
    • (1978) Cleft Palate , 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
  • 2
    • 0000920343 scopus 로고    scopus 로고
    • Het velo-cardio-faciaal syndrome: Een frequente genetische aandoening veroorzaakt door microdeleties in chromosoom 22q11
    • Devriendt K., Swillen A., Frijns J.P. Het velo-cardio-faciaal syndrome: een frequente genetische aandoening veroorzaakt door microdeleties in chromosoom 22q11. Tijdschr. Voor Geneesk. 52:1996;511-521.
    • (1996) Tijdschr. Voor Geneesk. , vol.52 , pp. 511-521
    • Devriendt, K.1    Swillen, A.2    Frijns, J.P.3
  • 6
    • 16944364802 scopus 로고    scopus 로고
    • Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study
    • Ryan A.K., Goodship J.A., Wilson D.I. et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J. Med. Genet. 34:1997;798-804.
    • (1997) J. Med. Genet. , vol.34 , pp. 798-804
    • Ryan, A.K.1    Goodship, J.A.2    Wilson, D.I.3
  • 7
    • 0019352243 scopus 로고
    • The velo-cardio-facial syndrome: A clinical and genetic analysis
    • Shprintzen R.J, Goldberg R.B., Young D., Wolford L. The velo-cardio-facial syndrome: a clinical and genetic analysis. Pediatrics. 67:1981;167-172.
    • (1981) Pediatrics , vol.67 , pp. 167-172
    • Shprintzen, R.J.1    Goldberg, R.B.2    Young, D.3    Wolford, L.4
  • 8
    • 0031132215 scopus 로고    scopus 로고
    • Chromosome 22q11 deletion syndrome: An update and review for the primary pediatrician
    • Thomas J.A., Graham J.M. Chromosome 22q11 deletion syndrome: an update and review for the primary pediatrician. Clin. Pediatr. (Philadelphia). 36:1997;253-266.
    • (1997) Clin. Pediatr. (Philadelphia) , vol.36 , pp. 253-266
    • Thomas, J.A.1    Graham, J.M.2
  • 9
    • 0027992704 scopus 로고
    • Genetic basis of DiGeorge and velocardiofacial syndromes
    • Driscoll D.A. Genetic basis of DiGeorge and velocardiofacial syndromes. Curr. Opin. Pediatr. 6:1994;702-706.
    • (1994) Curr. Opin. Pediatr. , vol.6 , pp. 702-706
    • Driscoll, D.A.1
  • 11
    • 0027374991 scopus 로고
    • DiGeorge syndrome: An historical review of clinical and cytogenetic features
    • Greenberg F. DiGeorge syndrome: an historical review of clinical and cytogenetic features. J. Med. Genet. 30:1993;803-806.
    • (1993) J. Med. Genet. , vol.30 , pp. 803-806
    • Greenberg, F.1
  • 12
    • 0027422074 scopus 로고
    • Editorial. CATCH 22
    • Hall J.G. Editorial. CATCH 22. J. Med. Genet. 30:1993;801-802.
    • (1993) J. Med. Genet. , vol.30 , pp. 801-802
    • Hall, J.G.1
  • 13
    • 0029834096 scopus 로고    scopus 로고
    • What's in a name? Chromosome 22q abnormalities and the DiGeorge, velocardiofacial, and conotruncal anomalies face syndromes
    • Wulfsberg E.A., Leana-Cox J., Neri G. What's in a name? Chromosome 22q abnormalities and the DiGeorge, velocardiofacial, and conotruncal anomalies face syndromes. Am. J. Med. Genet. 65:1996;317-319.
    • (1996) Am. J. Med. Genet. , vol.65 , pp. 317-319
    • Wulfsberg, E.A.1    Leana-Cox, J.2    Neri, G.3
  • 14
    • 0029849619 scopus 로고    scopus 로고
    • Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: Report of five families with review of the literature
    • Leana-Cox J., Pangkanon S., Eanet K.R., Curtin M.S., Wulfsberg E.A. Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with review of the literature. Am. J. Med. Genet. 65:1996;309-316.
    • (1996) Am. J. Med. Genet. , vol.65 , pp. 309-316
    • Leana-Cox, J.1    Pangkanon, S.2    Eanet, K.R.3    Curtin, M.S.4    Wulfsberg, E.A.5
  • 15
    • 0027370619 scopus 로고
    • Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counselling and prenatal diagnosis
    • Driscoll D.A., Salvin J., Sellinger B., Budarf M.L., Mcdonald-Mcginn D.M., Zackai E.H., Emanuel B.S. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J. Med. Genet. 30:1993;813-817.
    • (1993) J. Med. Genet. , vol.30 , pp. 813-817
    • Driscoll, D.A.1    Salvin, J.2    Sellinger, B.3    Budarf, M.L.4    McDonald-Mcginn, D.M.5    Zackai, E.H.6    Emanuel, B.S.7
  • 20
    • 0030444261 scopus 로고    scopus 로고
    • Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations
    • Ravnan J.B., Chen E., Golabi M., Lebo R.V. Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations. Am. J. Med. Genet. 66:1996;250-256.
    • (1996) Am. J. Med. Genet. , vol.66 , pp. 250-256
    • Ravnan, J.B.1    Chen, E.2    Golabi, M.3    Lebo, R.V.4
  • 24
    • 0031009068 scopus 로고    scopus 로고
    • Intelligence and psychosocial adjustment in velocardiofacial syndrome: A study of 37 children and adolescents with VCFS
    • Swillen A., Devriendt K., Legius E., Dumoulin M., Gewillig M., Frijns Jp. Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. J. Med. Genet. 34:1997;453-458.
    • (1997) J. Med. Genet. , vol.34 , pp. 453-458
    • Swillen, A.1    Devriendt, K.2    Legius, E.3    Dumoulin, M.4    Gewillig, M.5    Frijns, Jp.6
  • 25
    • 0027768399 scopus 로고
    • Velocardiofacial syndrome: Analysis of phoniatric and other clinical findings
    • Hapaanen M.J., Somer M. Velocardiofacial syndrome: analysis of phoniatric and other clinical findings. Folia Phoniatr. 45:1993;239-346.
    • (1993) Folia Phoniatr. , vol.45 , pp. 239-346
    • Hapaanen, M.J.1    Somer, M.2
  • 28
    • 0030624502 scopus 로고    scopus 로고
    • A proposal for standardization of speech and hearing evaluations to assess velopharyngeal function
    • Hirschberg J., Van Demark Dr. A proposal for standardization of speech and hearing evaluations to assess velopharyngeal function. Folia Phoniatr. Logop. 49:1997;158-167.
    • (1997) Folia Phoniatr. Logop. , vol.49 , pp. 158-167
    • Hirschberg, J.1    Van Demark, Dr.2
  • 29
    • 0029803147 scopus 로고    scopus 로고
    • A model of practice for the management of velopharyngeal dysfunction
    • Sell D., Ma L. A model of practice for the management of velopharyngeal dysfunction. Br. J. Oral Maxillofac. Surg. 34:1996;357-363.
    • (1996) Br. J. Oral Maxillofac. Surg. , vol.34 , pp. 357-363
    • Sell, D.1    Ma, L.2
  • 32
    • 0019430029 scopus 로고
    • Patterns of velopharyngeal valving in normal and cleft palate subjects: A multiview videofluoroscopic and nasoendoscopic study
    • Croft C.B., Shprintzen R.J., Rakoff S.J. Patterns of velopharyngeal valving in normal and cleft palate subjects: a multiview videofluoroscopic and nasoendoscopic study. Laryngoscope. 91:1981;265-271.
    • (1981) Laryngoscope , vol.91 , pp. 265-271
    • Croft, C.B.1    Shprintzen, R.J.2    Rakoff, S.J.3
  • 33
    • 0025049746 scopus 로고
    • Standardization for the reporting of nasopharyngoscopy and multiview videofluorscopy: A report from an international working group
    • Golding-Kushner K.J. Standardization for the reporting of nasopharyngoscopy and multiview videofluorscopy: a report from an international working group. Cleft Palate J. 27:1990;337-348.
    • (1990) Cleft Palate J. , vol.27 , pp. 337-348
    • Golding-Kushner, K.J.1
  • 34
    • 0020329243 scopus 로고
    • Some characteristics of endoscopic and radiological systems used in elaboration of the diagnosis of velopharyngeal incompetence
    • Pigott W., Makepeace A.P. Some characteristics of endoscopic and radiological systems used in elaboration of the diagnosis of velopharyngeal incompetence. Br. J. Plast. Surg. 35:1982;19-32.
    • (1982) Br. J. Plast. Surg. , vol.35 , pp. 19-32
    • Pigott, W.1    Makepeace, A.P.2
  • 35
    • 0020327481 scopus 로고
    • Comparative reliability of nasal pharyngoscopy and videofluorography in the assessment of velopharyngeal incompetence
    • Sinclair S.W., Davies D.M., Bracka A. Comparative reliability of nasal pharyngoscopy and videofluorography in the assessment of velopharyngeal incompetence. Br. J. Plast. Surg. 35:1982;113-117.
    • (1982) Br. J. Plast. Surg. , vol.35 , pp. 113-117
    • Sinclair, S.W.1    Davies, D.M.2    Bracka, A.3
  • 37
    • 0026526102 scopus 로고
    • Comparison of velopharyngeal gap size in patients with hypernasality, hypernasality and nasal emission, or nasal turbulence (rustle) as the primary speech characteristic
    • Kummer A.W., Curtis C., Wiggs M., Lee L., Strife J.L. Comparison of velopharyngeal gap size in patients with hypernasality, hypernasality and nasal emission, or nasal turbulence (rustle) as the primary speech characteristic. Cleft Palate Cranio-fac. J. 29:1992;152-156.
    • (1992) Cleft Palate Cranio-fac. J. , vol.29 , pp. 152-156
    • Kummer, A.W.1    Curtis, C.2    Wiggs, M.3    Lee, L.4    Strife, J.L.5
  • 39
    • 0024562434 scopus 로고
    • Patterns and location of velopharyngeal valving problems: Atypical findings on video nasopharyngoscopy
    • Witzel M.A., Posnick J.C. Patterns and location of velopharyngeal valving problems: atypical findings on video nasopharyngoscopy. Cleft Palate J. 26:1989;63-67.
    • (1989) Cleft Palate J. , vol.26 , pp. 63-67
    • Witzel, M.A.1    Posnick, J.C.2
  • 40
    • 0020324516 scopus 로고
    • The results of 100 operations for velopharyngeal incompetence-selected on the findings of endoscopic and radiological examination
    • Albery E.H., Bennett J.A., Pigott R.W., Simmons R.M. The results of 100 operations for velopharyngeal incompetence-selected on the findings of endoscopic and radiological examination. Br. J. Plast. Surg. 30:1982;118-126.
    • (1982) Br. J. Plast. Surg. , vol.30 , pp. 118-126
    • Albery, E.H.1    Bennett, J.A.2    Pigott, R.W.3    Simmons, R.M.4
  • 42
    • 0000335759 scopus 로고
    • Treatment of articulation and resonance disorders associated with cleft palate and VPI
    • R.J. Shprintzen, & J. Bardach. St. Louis, Missouri: Mosby-Year Book
    • Golding-Kushner K.J. Treatment of articulation and resonance disorders associated with cleft palate and VPI. Shprintzen R.J., Bardach J. Cleft Palate Speech Management - A Multidisciplinary Approach. 1995;327-351 Mosby-Year Book, St. Louis, Missouri.
    • (1995) Cleft Palate Speech Management - a Multidisciplinary Approach , pp. 327-351
    • Golding-Kushner, K.J.1
  • 43
    • 0028296254 scopus 로고
    • Tailoring velopharyngeal surgery: The influence of etiology an type of operation
    • Peat B.G., Albery A.H., Jones K., Pigott R.W. Tailoring velopharyngeal surgery: the influence of etiology an type of operation. Plast. Reconstr. Surg. 93:1994;948-953.
    • (1994) Plast. Reconstr. Surg. , vol.93 , pp. 948-953
    • Peat, B.G.1    Albery, A.H.2    Jones, K.3    Pigott, R.W.4
  • 44
    • 0028332091 scopus 로고
    • Review article. Velopharyngeal (speech) disorder (VP(S)D) without overt cleft palate
    • Pigott R.W. Review article. Velopharyngeal (speech) disorder (VP(S)D) without overt cleft palate. Br. J. Plast. Surg. 47:1994;223-229.
    • (1994) Br. J. Plast. Surg. , vol.47 , pp. 223-229
    • Pigott, R.W.1
  • 45
    • 0028788697 scopus 로고
    • Modified orticochea pharyngoplasty for treatment of unilateral velopharyngeal incompetence
    • Bonawitz S.C., Conley S.F., Denny A.D. Modified orticochea pharyngoplasty for treatment of unilateral velopharyngeal incompetence. Ann. Plast. Surg. 35:1995;607-611.
    • (1995) Ann. Plast. Surg. , vol.35 , pp. 607-611
    • Bonawitz, S.C.1    Conley, S.F.2    Denny, A.D.3
  • 47
    • 0027980322 scopus 로고
    • Sphincter pharyngoplasty: A preoperative and postoperative analysis of perceptual speech characteristics and endoscopic studies of velopharyngeal function
    • Witt P.D., D'antonio L.L., Zimmerman G.J., Marsh J.L. Sphincter pharyngoplasty: a preoperative and postoperative analysis of perceptual speech characteristics and endoscopic studies of velopharyngeal function. Plast. Reconstr. Surg. 93:1994;1154-1168.
    • (1994) Plast. Reconstr. Surg. , vol.93 , pp. 1154-1168
    • Witt, P.D.1    D'Antonio, L.L.2    Zimmerman, G.J.3    Marsh, J.L.4
  • 49
    • 0028297406 scopus 로고
    • Perioperative complications of superior pharyngeal flap surgery in children
    • Valnicek S.M., Zuker R.M., Halpern L.M., Roy W.L. Perioperative complications of superior pharyngeal flap surgery in children. Plast. Reconstr. Surg. 93:1994;954-958.
    • (1994) Plast. Reconstr. Surg. , vol.93 , pp. 954-958
    • Valnicek, S.M.1    Zuker, R.M.2    Halpern, L.M.3    Roy, W.L.4
  • 50
    • 0029877271 scopus 로고    scopus 로고
    • The use of magnetic resonance angiography prior to pharyngeal flap surgery in patients with velocardiofacial syndrome
    • Mitnick R.J., Bello J.A., Golding-Kushner K.J., Argamaso R.V., Shprintzen R.J. The use of magnetic resonance angiography prior to pharyngeal flap surgery in patients with velocardiofacial syndrome. Plast. Reconstr. Surg. 96:1996;908-919.
    • (1996) Plast. Reconstr. Surg. , vol.96 , pp. 908-919
    • Mitnick, R.J.1    Bello, J.A.2    Golding-Kushner, K.J.3    Argamaso, R.V.4    Shprintzen, R.J.5
  • 51
    • 0030905699 scopus 로고    scopus 로고
    • Magnetic resonance angioplasty for prepharyngoplasty assessment in velocardiofacial syndrome
    • Krugman M.E., Brant-Zawadaski M.B. Magnetic resonance angioplasty for prepharyngoplasty assessment in velocardiofacial syndrome. Cleft Palate Cranio-fac. J. 34:1997;266-267.
    • (1997) Cleft Palate Cranio-fac. J. , vol.34 , pp. 266-267
    • Krugman, M.E.1    Brant-Zawadaski, M.B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.