Thyroid gland and carotid artery anomalies in 22qll.2 deletion syndromes

Laryngoscope

Volumn 119, Issue 8, 2009, Pages 1495-1500

  De Almeida, John R ^a   James, Adrian L ^a   Papsin, Blake C ^a   Weksburg, Rosanna ^a   Clark, Howard ^a   Blaser, Susan ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

22q11Ds; Common carotid artery bifurcation; Thyroid gland

Indexed keywords

ADOLESCENT; AGE DISTRIBUTION; ARTICLE; CAROTID ARTERY; CAROTID ARTERY ANOMALY; CAROTID ARTERY BIFURCATION; CASE CONTROL STUDY; CERVICAL SPINE; CHILD; CHROMOSOME 22Q11.2 DELETION SYNDROME; CHROMOSOME DELETION; CLINICAL ASSESSMENT; CLINICAL EXAMINATION; COMPUTER ASSISTED TOMOGRAPHY; CONTRAST ENHANCEMENT; CONTROLLED STUDY; DIGEORGE SYNDROME; DISEASE COURSE; ESOPHAGUS; FEMALE; HUMAN; MAJOR CLINICAL STUDY; MALE; PALATOPHARYNGEAL INCOMPETENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; RADIOLOGY; RETROSPECTIVE STUDY; SCHOOL CHILD; SEX DIFFERENCE; THREE DIMENSIONAL IMAGING; THYROID DISEASE; THYROID GLAND;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CAROTID ARTERY, COMMON; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; FEMALE; HUMANS; IMAGING, THREE-DIMENSIONAL; INCIDENCE; MALE; PROBABILITY; PROGNOSIS; RETROSPECTIVE STUDIES; RISK ASSESSMENT; STATISTICS, NONPARAMETRIC; THYROID GLAND; TOMOGRAPHY, X-RAY COMPUTED; VELOPHARYNGEAL INSUFFICIENCY;

EID: 68849095578     PISSN: 0023852X     EISSN: None     Source Type: Journal    
DOI: 10.1002/lary.20281     Document Type: Article

References (27)

1. Tezenas D, Montcel S, Mendizabai H, et al. Prevalence of 22q11 microdeletion. J Med Genet 1996;33:719-722.
2. Driscoll DA, Salvin J, Sellinger B, et al. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet 1993 30:813-817.
3. Robin NH, Shprintzen RJ. Defining the clinical spectrum of deletion 22q11.2. J Pediatr 2005;147:90-96.
4. Shprintzen RJ. Velo-cardio-facial syndrome. In: Cassidy SB, J. Allanson J, eds. Management of Genetic Syndromes. 2nd ed. New York, NY: John Wiley &Sons; 2005:615-632.
5. Shprintzen RJ. Velocardiofacial syndrome. Otolaryngol Clin North Am 2000;33:1217-1240.
6. Shprintzen RJ, Goldberg RB, Lewin ML, et al. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J 1978;15:56-62.
7. Emanuel BS, McDonald-McGinn D, Saitta SC, et al. The 22q11.2 deletion syndrome. Adv Pediatr 2001;48:39-73.
8. Yamagishi H. The 22q11.2 deletion syndrome. Keio J Med 2002;51:77-88.
9. McDonald-McGinn DM, Kirschner R, Goldmuntz E, et al. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns 1999;10:11-24.
10. Kawame H, Adachi M, Tachibana K, et al. Graves' disease in patients with 22q11.2 deletion. J Pediatr 2001;139: 892-895.
11. Burke BA, Johnson D, Gilbert EF, et al. Thyrocalcitonin-containing cells in the DiGeorge anomaly. Hum Pathol 1987;18:355-360.
12. Pueblitz S, Weinberg AG, Albores-Saavedra J. Thyroid C cells in the DiGeorge anomaly: a quantitative study. Pediatr Pathol 1993;13:463-473.
13. Manley NR, Capecchi MR. The role of hoxa-3 in mouse thymus and thyroid development. Development 1995;121: 1989-2003.
14. Liao J, Kochilas L, Nowotschin S, et al. Full spectrum of malformations in velocardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. Hum Mol Genet 2004;13:1577-1585.
15. Kameda Y, Nishimaki T, Takeichi M, et al. Homeobox gene Hoxa3 is essential for the formation of the carotid body in the mouse embryos. Dev Biol 2002;247:197-209.
16. Chisaka O, Kameda Y. Hoxa-3 regulates the proliferation and differentiation of the third pharyngeal arch mesen-chyme in mice. Cell Tissue Res 2005;320:77-89.
17. Anu VR, Pai MM, Rajalakshmi R, et al. Clinically-relevant variations of the carotid arterial system. Singapore Med J 2007;48:566-569.
18. Lo A, Oehley M, Bartlett A, et al. Anatomical variations of the common carotid artery bifurcation. ANZ J Surg 2006; 76:970-972.
19. Chegar BE, Tatum SA, Marrinan E, et al. Upper airway asymmetry in velo-cardio-facial syndrome. Int J Pediatr Otorhinolaryngol 2006;70:1375-1381.
20. James A, Stewart C, Warrick P, et al. Branchial sinus of the piriform fossa: reappraisal of third and fourth branchial anomalies. Laryngoscope 2007;117:1920-1924.
21. Chieffo C, Garvey N, Gong W, et al. Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene. Genomics 1997;43: 267-277.
22. Naiche LA, Harrelson Z, Kelly RG, et al. T-box genes in vertebrate development. Annu Rev Genet 2005;39:219-239.
23. Chapman DL, Garvey N, Hancock S, et al. Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development. Dev Dyn 1996;206:379-390.
24. Aggarwal VS, Liao J, Bondarev A, et al. Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy. Hum Mol Gen 2006;15:3219-3228.
25. Gaunt SJ. Mouse homeobox gene transcripts occupy different but overlapping domains in embryonic germ layers and organs: a comparison of Hox-3.1 and Hox-1.5. Development 1988;103:135-144.
26. Alt B, Elsalini OA, Schrumpf P, et al. Arteries define the position of the thyroid gland during its developmental relocalisation. Development 2006;133:3797-3804.
27. Fagman H, Andersson L, Nilsson M. The developing mouse thyroid: embryonic vessel contacts and parenchymal growth pattern during specification, budding, migration, and lobulation. Dev Dyn 2006;235:444-455.