DiGeorge syndrome associated with solitary median maxillary central incisor

Asian Pacific Journal of Allergy and Immunology

Volumn 23, Issue 2-3, 2005, Pages 159-163

  Yang, Huai Chih ^a   Shyur, Shyh Dar ^b   Huang, Li Hsin ^b   Chang, Yi Chi ^b   Wen, Da Chin ^b   Liang, Pei Hsuan ^b   Lin, Mao Tsair ^b  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b Taipei County Hospital   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

AMPICILLIN; CALCITRIOL; GENTAMICIN; RIBAVIRIN;

AIRWAY OBSTRUCTION; ARTICLE; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME DELETION; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DIGEORGE SYNDROME; DISEASE ASSOCIATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ANALYSIS; HUMAN; INCISOR; NEWBORN; PANORAMIC RADIOGRAPHY; PHENOTYPE; RESPIRATORY DISTRESS; RESPIRATORY SYNCYTIAL PNEUMOVIRUS; TOOTH MALFORMATION; VIRUS INFECTION;

ABNORMALITIES, MULTIPLE; AIRWAY OBSTRUCTION; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INCISOR; INFANT, NEWBORN; MAXILLA; PEDIGREE; RESPIRATORY DISTRESS SYNDROME, NEWBORN;

EID: 27544443173     PISSN: 0125877X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (33)

1. Goodship J, Cross I, LiLing J, Wren C. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child 1998; 79: 348-51.
2. Devriendt K, Fryns JP, Mortier G, van Thienen MN, Keymolen K. The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet 1998; 35: 789-90.
3. Stiehm ER, Ochs HD, Winkelstein JA. Immunologic Disorders in Infants & Children. 5th edition, Elsevier Saunders, Philadelphia, 2004.
4. Hall RK, Bankier A, Aldred MJ, Kan K, Lucas JO, Perks AG. Solitary median maxillary central incisor, short stature, choanal atresia/midnasal stenosis (SMMCI) syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1997; 84: 651-62.
5. Yamagishi H. The 22q11.2 deletion syndrome. Keio J Med 2002; 51: 77-88.
6. Edelmann L, Pandita RK, Spiteri E, et al. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet 1999; 8: 1157-67.
7. Baldini A. DiGeorge syndrome: the use of model organisms to dissect complex genetics. Hum Mol Genet 2002; 11: 2363-9.
8. Goodship J, Cross I, Scambler P, Burn J. Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J Med Genet 1995; 32: 746-8.
9. Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM (December, 2004)
10. Scott D. Absence of upper central incisors. Br Dent J 1958; 104: 247.
11. Kjaer I, Becktor KB, Lisson J, Gormsen C, Russell BG. Face, palate, and craniofacial morphology in patients with a solitary median maxillary central incisor. Eur J Orthod 2001; 23: 63-73.
12. Kocsis SG. A single central maxillary incisor in the midline as a mild form of holoprosencephaly. Fogorv Sz 1994; 87: 63-70.
13. Camera G, Bovone S, Zucchinetti P. Pozzolo S, Giunta E. Single maxillary central incisor and holoprosencephaly. Pathologica 1992; 84: 425-8.
14. Hattori H, Okuno T, Momoi T, Kataoka K, Mikawa H, Shiota K. Single central maxillary incisor and holoprosencephaly. Am J Med Genet 1987; 28: 483-7.
15. Berry SA, Pierpont ME, Gorlin RJ. Single central incisor in familial holoprosencephaly. J Pediatr 1984; 104: 877-80.
16. Nanni L, Ming JE, Du Y, et al. SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature. Am J Med Genet 2001; 102: 1-10.
17. Garavelli L, Zanacca C, Caselli G, et al. Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog. Am J Med Genet 2004; 127A: 93-5.
18. Harrison M, Calvert ML, Longhurst P. Solitary maxillary central incisor as a new finding in CHARGE association: a report of two cases. Int J Paediatr Dent 1997; 7: 185-9.
19. Wesley RK, Hoffman WH, Perrin J, Delaney JR, Jr. Solitary maxillary central incisor and normal stature. Oral Surg Oral Med Oral Pathol 1978; 46: 837-42.
20. Aughton DJ, AlSaadi AA, Transue DJ. Single maxillary central incisor in a girl with del (18p) syndrome. J Med Genet l991; 28: 530-2.
21. Boudailliez B, Morichon-Delvallez N, Goldfarb A, Pautard JC, Lenaerts C, Piussan C. Solitary upper incisor, hypopituitarism and monosomy 18p chromosome aberration. J Genet Hum 1983; 31: 239-42.
22. Dolan LM, Willson K, Wilson WG. 18p - syndrome with a single central maxillary incisor. J Med Genet 1981; 18: 396-8.
23. Taine L, Goizet C, Wen ZQ, et al. 18p monosomy with midline defects and a de novo satellite identified by FISH. Ann Genet 1997; 40: 158-63.
24. Tavin E, Stecker E, Marion R. Nasal pyriform aperture stenosis and the holoprosencephaly spectrum. Int J Pediatr Otorhinolaryngol 1994; 28: 199-204.
25. Frints SG, Schrander-Stumpel CT, Schoenmakers EF, et al. Strong variable clinical presentation in 3 patients with 7q terminal deletion. Genet Couns 1998; 9: 5-14.
26. Masuno M, Fukushima Y, Sugio Y, Ikeda M, Kuroki Y. Two unrelated cases of single maxillary central incisor with 7q terminal deletion. Jinrui Idengaku Zasshi 1990; 35: 311-7.
27. Bazan MT. Fusion of maxillary incisors across the midline: clinical report. Pediatr Dent 1983; 5: 220-1.
28. Ellisdon PS, Marshall KF. Connation of maxillary incisors. Br Dent J 1970; 129: 16-21.
29. Sadler TW. Langman's Medical Embryology. 7th edition, Williams & Wilkins, Baltimore, 1995.
30. Jones KL. Smith's Recognizable Patterns of Human Malformation. 5th edition, W.B. Saunders Company, Philadelphia, 1997.
31. Yamagishi H, Maeda J, Hu T, et al. Tbx1 is regulated by tissue-specific forkhead proteins through a common sonic hedgehog-responsive enhancer. Genes Dev 2003; 17: 269-81.
32. Garg V, Yamagishi C, Hu T, Kathiriya IS, Yamagishi H, Srivastava D. Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development. Dev Biol 2001; 235: 62-73.
33. Lo FS, Lee KS, Chen LS, et al. Congenital nasal pyriform aperture stenosis: a diagnostic clue to solitary maxillary central incisor prior to eruption in three infants. J Otolaryngol 1999; 28: 51-3.