DiGeorge syndrome/velocardiofacial syndrome: Oral and maxillofacial surgery;Das DiGeorge-syndrom/velokardiofaziale syndrom in der mund-, kiefer- und gesichtschirurgie

HNO

Volumn 51, Issue 9, 2003, Pages 755-758

  Pradel, W ^a   Bartsch, O ^b   Muller R ^b   Lauer, G ^b   Eckelt, U ^b  

^a UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^b NONE

Author keywords

Cleft lip cleft palate; Deletion 22q11; DiGeorge syndrome; Velocardiofacial syndrome

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CHROMOSOME 22Q; CHROMOSOME DELETION; CLEFT LIP; CLEFT PALATE; CONGENITAL HEART DISEASE; CONTROLLED STUDY; DIGEORGE SYNDROME; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH RETARDATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MAXILLOFACIAL SURGERY; ORAL SURGERY; PALATOPHARYNGEAL INCOMPETENCE; PSEUDOHYPOPARATHYROIDISM; SPEECH DISORDER; THYMUS APLASIA; TREATMENT OUTCOME; VELOCARDIOFACIAL SYNDROME;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CLEFT PALATE; DIGEORGE SYNDROME; FEMALE; GENETIC SCREENING; HUMANS; INFANT; INFANT, NEWBORN; LANGUAGE DEVELOPMENT DISORDERS; MALE; SURGERY, ORAL;

EID: 0141483757     PISSN: 00176192     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00106-003-0874-2     Document Type: Article

References (14)

1. Bartsch O (1999) Moderne zytogenetische Diagnostik (FISH, Fluoreszenz-in-situ-Hybridisierung) bei Kindern und Schwangeren. Habilitationsschrift, Medizinische Fakultät der Technischen Universität Dresden
2. Bartsch O, Wagner, Hinkel GK (1999) No evidence for chromosomal microdeletions at the second DiGeorge syndrome locus on 10p near D10S585. Am J Med Genet 83:425-426
3. Burn J, Takao A, Wilson D et al. (1993) Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. J Med Genet 30:822-824
4. Demczuk S, Aurias A (1995) DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. a review. Ann Genet 38: 59-76
5. Finkelstein Y, Zohar Y, Nachmani A et al. (1993) The otolaryngologist and the patient with velocardiofacial syndrome. Arch Otolaryngol Head Neck Surg 119:563-569
6. Goldberg R, Motzkin B, Marion R, Scambler PJ, Shprintzen RJ (1993) Velo-cardio-facial syndrome: a review of 120 patients. Am J Med Genet 45:313-319
7. Gosian AK, Conley SF, Marks S, Larson DL (1996) Sub-mucous cleft palate: diagnostic methods and outcomes of surgical treatment. Plast Reconstr Surg 7:1497-1509
8. Kaplan EN (1975) The occult submucous cleft palate. Cleft Palate J 12:356-68
9. König R (1997): Catch 22. Kinderarzt 1:43-48
10. Lammer EJ, Opitz JM (1986) The DiGeorge anomaly as a developmental field defect. Am J Med Genet (Suppl) 2: 113-127
11. Ryan AK, Goodship LA,Wilson DI et al. (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34:798-804
12. Shprintzen RJ (1994) Velocardlofacial syndrome and DiGeorge sequence. J Med Genet 31:423-424
13. Wilson DI, Burn J, Scambler P, Burn J,Goodship J (1993) DiGeorge syndrome: part of CATCH 22. J Med Genet 30: 852-656
14. Wilson DI, Cross IE, Wren C et al. (1994) Minimum prevalence of chromosome 22q11 deletions. Am J Hum Genet 55:A169