Otolaryngologic manifestations of the 22q11.2 deletion syndrome

Archives of Otolaryngology - Head and Neck Surgery

Volumn 128, Issue 12, 2002, Pages 1408-1412

  Dyce, Orville ^a   McDonald McGinn, Donna ^a   Kirschner, Richard E ^a   Zackai, Elaine ^a   Young, Kathleen ^a   Jacobs, Ian N ^a,b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b Richard D Wood Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUDIOGRAPHY; CAROTID ARTERY DISEASE; CHROMOSOME 22Q; CHROMOSOME DELETION; CLEFT PALATE; CLINICAL FEATURE; CONDUCTION DEAFNESS; DYSPHAGIA; ENDOSCOPY; EPICANTHUS; EXTERNAL EAR MALFORMATION; FACE ASYMMETRY; FACE DYSMORPHIA; FACIES; FEEDING DISORDER; FLUORESCENCE IN SITU HYBRIDIZATION; GASTROESOPHAGEAL REFLUX; HEAD; HEARING LOSS; HEART DISEASE; HUMAN; HYPERTELORISM; LANGUAGE DISABILITY; LOW SET EAR; MAJOR CLINICAL STUDY; MEDICAL RECORD; MICROTIA; NECK; OTITIS MEDIA; OTORHINOLARYNGOLOGY; OUTPATIENT DEPARTMENT; PALATOPHARYNGEAL INCOMPETENCE; PEDIATRIC HOSPITAL; RECURRENT DISEASE; RESPIRATORY TRACT DISEASE; RETROGNATHIA; RHINITIS; SPEECH; SPEECH DISORDER; SUBMUCOSA; TRACHEOESOPHAGEAL FISTULA; TRACHEOMALACIA; VASCULAR DISEASE; VASCULARIZATION; VOCAL CORD PARALYSIS;

EID: 0036897149     PISSN: 08864470     EISSN: None     Source Type: Journal    
DOI: 10.1001/archotol.128.12.1408     Document Type: Article

References (25)

1. Shprintzen RJ, Golberg RB, Lewin ML, et al. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo-cardiofacial syndrome. Cleft Palate J. 1978;15:56-120.
2. Motzkin B, Marion R, Goldberg R, Shprintzen R, Saenger P. Variable phenotypes in velo-cardio-facial syndrome with chromosomal deletion. J Pediatr. 1993; 123:406-410.
3. Shprintzen RJ. Velo-Cardio-Facial Syndrome Educational Foundation, Inc. VCFS Clinical Database Project. Last updated February 14, 2000. Available at: http:// www.vcfsef.org. Accessed March 5, 2000.
4. Mitnick RJ, Bello JA, Golding-Kushner KJ, Argamaso RV, Shprintzen RJ. The use of magnetic resonance angiography prior to pharyngeal flap surgery in patients with velo-cardio-facial syndrome. Plast Reconstr Surg. 1996;97:908-919.
5. Goldberg R, Motzkin B, Marion R, Scambler PJ, Shprintzen RJ. Velo-cardiofacial syndrome: A review of 120 patients. Am J Med Genet. 1993;45:313-319.
6. Kelley RI, Zackai EH, Emanuel BS, Kistenmacher M, Greenberg F, Punnett HH. The association of the DiGeorge anomalad with partial monosomy of chromosome 22. J Pediatr. 1982;101:197-200.
7. Driscoll DA, Budarf ML, Emanuel BS. A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11. Am J Hum Genet. 1992; 50:924-933.
8. Burn J, Takao A, Wilson D, et al. Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22. J Med Genet. 1993;30:822-824.
9. Gianotti A, Diglio MC, Marino B, Mingarelli R, Dallapiccola B. Cayler cardiofacial syndrome and del 22q11: Part of the CATCH22 phenotype. Am J Med Genet. 1994; 53:303-304.
10. McDonald-McGinn DM, Driscoll DA, Bason L, et al. Autosomal dominant "Opitz" G/BBB syndrome due to a 22q11.2 deletion. Am J Med Genet. 1995;59:103-112.
11. Devriendt K, Fryns J, Mortier G, Van Thienen M, Keymolen K. The annual incidence of DiGeorge/velo-cardio-facial syndrome. J Med Genet. 1998;35:789-790.
12. McQuade L, Christodoulou J, Budarf M, et al. Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR). Am J Med Genet. 1999;86:27-33.
13. Stevens CA, Carey, JC, Shigeoka AO. DiGeorge anomaly and velo-cardio-facial syndrome. Pediatrics. 1990;85:526-530.
14. Scambler PJ, Kelly D, Lindsay E, et al. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet. 1992; 339:1138-1139.
15. Vantrappen G, Rommel N, Cremers CW, Devriendt K, Frijns JP. The velo-cardiofacial syndrome: The otorhinolaryngeal manifestations and implications. Int J Pediatr Otorhinolaryngol. 1998;45:133-141.
16. Vantrappen G, Devriendt K, Swillen A, et al. Presenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome: The Leuven experience. Genet Couns. 1999;10:3-9.
17. McDonald-McGinn DM, LaRossa D, Goldmuntz E, et al. The 22q11.2 deletion: Screening, diagnostic workup, and outcome of results - Report on 181 patients. Genet Test. 1997;1:99-108.
18. McDonald-McGinn DM, Kirschner R, et al. The Philadelphia story: The 22q11.2 deletion - Report on 250 patients. Genet Couns. 1999;10:11-24.
19. Gripp KW, McDonald-McGinn DM, et al. Nasal dimple as part of the 22q11.2 deletion syndrome. Am J Med Genet. 1997;69:90-92.
20. Gerdes M, Solot C, Wang Paul, et al. Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. Am J Med Genet. 1999;85:127-133.
21. Moss E, Batshaw M, Solot C, et al. Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern. J Pediatr. 1999;134:193-198.
22. Zori RT, Boyar FZ, Williams WN, et al. Prevalence of 22q11 deletion in patients with VPI. Am J Med Genet. 1998;77:8-11.
23. Rommel N, Vantrappen G, Swillen A, Devriendt K, Feenstra L, Fryns JP. Retrospective analysis of feeding and speech disorders in 50 patients with velo-cardiofacial syndrome. Genet Couns. 1999;10:71-78.
24. Thomas JA, Graham JM. Chromosome 22q11 deletion syndrome: An update and review for the primary pediatrician. Clin Pediatr (Phila). 1997;36:2253-2266.
25. Sackett DL. Bias in research. J Chronic Dis. 1979;32:51-63.