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Volumn 118, Issue 4, 1997, Pages 273-278

ENT and speech disorders in the DiGeorge syndrome;Aspects ORL et phoniatrique du syndrome de DiGeorge

Author keywords

Deafness; DiGeorge syndrome; Genetic anomalies; Rhinolalia

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 22Q; CHROMOSOME DELETION; CRANIOFACIAL MALFORMATION; CRANIOFACIAL SURGERY; DIGEORGE SYNDROME; FLUORESCENCE IN SITU HYBRIDIZATION; HEARING IMPAIRMENT; HUMAN; HYPOPARATHYROIDISM; MALE; SYNDROME DELINEATION;

EID: 0031425370     PISSN: 00351334     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (3)

References (29)
  • 1
    • 0000399572 scopus 로고
    • Congenital absence of the thymus and its immunologic consequences : Concurrence with congenital hypoparathyroidism
    • DIGEORGE A.M. Congenital absence of the thymus and its immunologic consequences : concurrence with congenital hypoparathyroidism. BIRTH DEFECTS. 1968;IV:116-121.
    • (1968) Birth Defects , vol.4 , pp. 116-121
    • Digeorge, A.M.1
  • 3
    • 0011704887 scopus 로고
    • Congenital anomalies of the external and middle ear
    • Bluestone C D. and Stool S.E edit., W.B. Saunders company publish.
    • SANDO I, SUEHIRO S, WOOD RP. Congenital anomalies of the external and middle ear. In Pediatric Otolaryngology, Bluestone C D. and Stool S.E edit., W.B. Saunders company publish. 1983;vol1.309-346.
    • (1983) Pediatric Otolaryngology , vol.1 , pp. 309-346
    • Sando, I.1    Suehiro, S.2    Wood, R.P.3
  • 4
    • 0025271112 scopus 로고
    • DiGeorge anomaly and velocardiofacial syndrome
    • STEVENS CA, CAREY JC, SHIGEOKA AO. DiGeorge anomaly and velocardiofacial syndrome. PEDIATRICS. 1990;85,4:526-530.
    • (1990) Pediatrics , vol.85 , Issue.4 , pp. 526-530
    • Stevens, C.A.1    Carey, J.C.2    Shigeoka, A.O.3
  • 6
    • 0027370619 scopus 로고
    • Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counselling and prenatal diagnosis
    • DRISCOLL DA, SALVIN J, SELLINGER B, AND AL. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J. MED. GENET. 1993;30:813-817.
    • (1993) J. Med. Genet. , vol.30 , pp. 813-817
    • Driscoll, D.A.1    Salvin, J.2    Sellinger, B.3
  • 7
    • 0017821181 scopus 로고
    • A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities velo cardio facial syndrome
    • SHPRINTZEN RJ, GOLDBERG RB. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities velo cardio facial syndrome. CLEF PALATE. 1978,15:56-62.
    • (1978) Clef Palate , vol.15 , pp. 56-62
    • Shprintzen, R.J.1    Goldberg, R.B.2
  • 8
    • 0014471310 scopus 로고
    • Cardiofacial syndrome: Congenital heart disease and facial weakness, a hitherto unrecognized assciation
    • CAYLER GG. Cardiofacial syndrome: congenital heart disease and facial weakness, a hitherto unrecognized assciation. ARCH Dis CHILD. 1969;44:69-75.
    • (1969) Arch Dis Child , vol.44 , pp. 69-75
    • Cayler, G.G.1
  • 11
    • 0018415066 scopus 로고
    • The spectrum of DiGeorge syndrome
    • CONLEY ME, BECKWITH JB and al. The spectrum of DiGeorge syndrome J PEDIAR. 1979:883-889.
    • (1979) J Pediar. , pp. 883-889
    • Conley, M.E.1    Beckwith, J.B.2
  • 12
    • 0024468206 scopus 로고
    • What defines DiGeorge anomaly ?
    • GREENBERG F. What defines DiGeorge anomaly ? J PEDIATR. 1989;115:412-413
    • (1989) J Pediatr. , vol.115 , pp. 412-413
    • Greenberg, F.1
  • 14
  • 15
    • 0027461868 scopus 로고
    • Routine diagnosis of DiGeorge syndrome by Fluorescent in Situ Hybridasation
    • DESMAZE C, SCAMBLER P, PRIEUR M. and al. Routine diagnosis of DiGeorge syndrome by Fluorescent In Situ Hybridasation. HUM. GENET. 1993;90:663-665.
    • (1993) Hum. Genet. , vol.90 , pp. 663-665
    • Desmaze, C.1    Scambler, P.2    Prieur, M.3
  • 16
    • 0028943334 scopus 로고
    • Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region
    • LINSDAY EA, GREENSBERG F, SHAFFER LG, SHAPIRA SK, SCAMBLER PJ, BALDINI A. Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region. AM J MED GEN. 1995 56 191-197.
    • (1995) AM J MED GEN. , vol.56 , pp. 191-197
    • Linsday, E.A.1    Greensberg, F.2    Shaffer, L.G.3    Shapira, S.K.4    Scambler, P.J.5    Baldini, A.6
  • 17
    • 0016261485 scopus 로고
    • Temporal bone findings in the third and fourth pharyngeal pouch (DiGeorge) syndrome
    • ADKINS WY JR, GUSSEN R. Temporal bone findings in the third and fourth pharyngeal pouch (DiGeorge) syndrome. ARCH OTOLARYNGOL 1974 100 206-208.
    • (1974) Arch Otolaryngol , vol.100 , pp. 206-208
    • Adkins Jr., W.Y.1    Gussen, R.2
  • 18
  • 19
    • 6844265268 scopus 로고
    • Surdité de transmission et dysmorphie faciale
    • PERRIN PH. Surdité de transmission et dysmorphie faciale. CAHIERS D'ORL. 1988;23,8:530-561.
    • (1988) Cahiers D'Orl. , vol.23 , Issue.8 , pp. 530-561
    • Perrin, P.H.1
  • 20
    • 84920300713 scopus 로고
    • Parole et langage de 100 enfants opérés de fente lavio-paletovelaire dont 37 de plus de 4 ans
    • DORDAIN M, PERI G. Parole et langage de 100 enfants opérés de fente lavio-paletovelaire dont 37 de plus de 4 ans. REVUE DE STOMATOLOGIE ET DE CHIRURGIE MAXILLO-FACIALE. 1981;82:1.
    • (1981) Revue de Stomatologie et de Chirurgie Maxillo-faciale , vol.82 , pp. 1
    • Dordain, M.1    Peri, G.2
  • 21
    • 84920291340 scopus 로고
    • Les boucles musculo aponévrotiques vélopharyngo-faciales Etude fonctionnelle
    • CHANCHOLLE A. Les boucles musculo aponévrotiques vélopharyngo-faciales Etude fonctionnelle. Ann. Chir. Plastique. 1980;25,135:1-46.
    • (1980) Ann. Chir. Plastique. , vol.25 , Issue.135 , pp. 1-46
    • Chancholle, A.1
  • 22
    • 0023577751 scopus 로고
    • Examen phoniatrique de l'insuffisance vélaire congénitale
    • POMMEZ J, REBUFY M. Examen phoniatrique de l'insuffisance vélaire congénitale. REV LARYNGOL OTOL RHINOL. 1987;108,4:299-305.
    • (1987) Rev Laryngol Otol Rhinol. , vol.108 , Issue.4 , pp. 299-305
    • Pommez, J.1    Rebufy, M.2
  • 23
    • 6844240571 scopus 로고
    • Respiration et voix
    • Thèse Médecine.
    • MARRACO M. Respiration et voix. Université Bordeaux II, Thèse Médecine. 1987: no24.
    • (1987) Université Bordeaux II , Issue.24
    • Marraco, M.1
  • 24
    • 0027403869 scopus 로고
    • Successful nasaendsocopie and aerodynamic examinations of children with speech, voice disorders
    • LOTS A, CHAIT N. Successful nasaendsocopie and aerodynamic examinations of children with speech, voice disorders. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY. 1993;26:165-172.
    • (1993) International Journal of Pediatric Otorhinolaryngology , vol.26 , pp. 165-172
    • Lots, A.1    Chait, N.2
  • 25
    • 0025185866 scopus 로고
    • Examens complémentaire dans le bilan de l'insuffisance vélaire
    • MARRACO M. Examens complémentaire dans le bilan de l'insuffisance vélaire. REV LARYNGOL OTOL RHINOL. 1990;111,4:393-395.
    • (1990) Rev Laryngol Otol Rhinol. , vol.111 , Issue.4 , pp. 393-395
    • Marraco, M.1
  • 26
    • 6844253592 scopus 로고
    • Insuffisance vélopharyngée (pathologie neurologique exceptée)
    • 20618.A10
    • MORGON A. Insuffisance vélopharyngée (pathologie neurologique exceptée). EMC. PARIS ORL. 1981:20618.A10, 4.
    • (1981) Emc. Paris Orl. , pp. 4
    • Morgon, A.1
  • 28
    • 0027408509 scopus 로고
    • Parents' attitudes toward family involvement in cleft palate treatment
    • PANNBACKER M, SCHEUERLE J. Parents' attitudes toward family involvement in cleft palate treatment. THE CLEFT PALATECRANIOFAClAL JOURNAL. 1993;30,1:87-89.
    • (1993) The Cleft Palatecraniofaclal Journal , vol.30 , Issue.1 , pp. 87-89
    • Pannbacker, M.1    Scheuerle, J.2
  • 29
    • 6844254244 scopus 로고
    • Microdélétions 22q11 -q11.23, CATCH 22 et variabilité du syndrome de DiGeorge
    • Thèse Médecine.
    • GADAN N. Microdélétions 22q11 -q11.23, CATCH 22 et variabilité du syndrome de DiGeorge. Université de Bordeaux II, Thèse Médecine. 1994:no149.
    • (1994) Université de Bordeaux II , Issue.149
    • Gadan, N.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.