CHARGE association is a nonrandom pattern of congenital anomalies that occurs together more frequently than one would expect on the basis of chance. This common multiple anomaly condition has an estimated prevalence of 1:10,000. The number of children diagnosed with CHARGE association is increasing, owing presumably to greater awareness of this condition and advances in the care of complex, chronically ill children, resulting in improved survival and outcome. This review of ClHARGE association presents diagnostic criteria that may define a concise, recognizable syndrome with a single pathogenetic basis. This review also summarizes our current understanding of the management for this complex and chronic multiple congenital anomaly condition and discusses the pathogenetic basis for this condition.
Get full access to this article
View all access options for this article.
References
1.
1. Hall BD. Choanal atresia and associated multiple anomalies. J Pediatr. 1979;95:395-398.
2.
2. Hittner HM, Hirsch NJ, Kreh GM, Rudolph AJ. Colobomatous microphthalmia, heart disease, hearing loss and mental retardation: a syndrome.J Pediatr Ophthalmol Strabismus. 1979;16:122-128.
3.
3. Pagon RA, Graham JM, Zonana J, Young SL. Congenital heart disease and choanal atresia with multiple anomalies. J Pediatr. 1981;99:223-227.
4.
4. Mitchell JA, Davenport SLH, Hefner MA, Shei MM. Use of an expert system to test diagnostic criteria in CHARGE syndrome. J Medical Systems. 1985; 9:425-436.
5.
5. Clementi M, Tenconi R, Turolla L, et al. Apparent CHARGE Association and chromosome anomaly: chance or contiguous gene syndrome. AmJMed Genet. 1991;41:246-250.
6.
6. North KN, Wu BL, Benning NC, et al. CHARGE association in a child with de novo inverted duplication (14) (q22- >q24.3). AmJMed Genet. 1995;57:610-614.
7.
7. Townes PL, White MR. Inherited partial trisomy 8q (22->qter). Am JDis Child. 1978;132:498-501.
8.
8. HurstJA, Meinecke P, Baraitser M. Balanced t(6;8) (6p8p;6q8q) and the CHARGE association. J Med Genet. 1991;28:54-55.
9.
9. Thomas J, Graham JM Jr. Chromosome 22qll deletion syndrome: an update and review for the primary pediatrician. Clin Pediatr. (in press) 1997.
10.
10. Driscoll DA, Budarf ML, Emanuel BS. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q 11. Am J Hum Genet. 1992;50:924-933.
11.
11. Schimmenti LA, Pierpont ME, Carpenter BLM, et al. Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies. AmJ Med Genet. 1995; 59:204-208.
12.
12. Cayler GG. Cardiofacial syndrome. Congenital heart disease and facial weakness, a hitherto unrecognized association. Arch Dis Child. 1969;44:69-75.
13.
13. Cozzi F. Glossoptosis as cause of apneic spells in infants with choanal atresia (letter). Lancet. 1977;2:830-831.
14.
14. Blake KD, Russell-Eggitt IM, Morgan DW, et al. Who's in CHARGE? Multidisciplinary management of patients with CHARGE association. Arch Dis Child. 1990;65:217-223.
15.
15. Kaplan LA. The CHARGE association: choanal atresia and multiple congenital anomalies. Otolaryngol Clin North Am. 1989;22:661-672.
18. Lin AE, Chin AJ, Devine W, et al. The pattern of cardiovascular malformation in the CHARGE association. AmJ Dis Child. 1987;141:1010-1013.
19.
19. Kutiyanawala M, Wyse RKH, Brereton RJ, et al. CHARGE and esophageal atresia. J Pediatr Surg. 1992;27:558-560.
20.
20. Brown OE, Burns DK, Smith TH, Rutledge JC. Bilateral posterior choanal atresia: a morphological and histologic study, with computed tomographic correlation. Int J Pediatr Otorhinolaryngol. 1987;13:125-142.
21.
21. Stack CG, Wyse RK. Incidence and managment of airway problems in the CHARGE association. Anaesthesia. 1991;46:582-585.
22.
22. Davenport SLH, Hefner MA, Mitchell JA. The spectrum of clinical features in CHARGE syndrome. Clin Genet. 1986;29:298-310.
23.
23. Edwards BM, Van Riper LA, Kileny PR. Clinical manifestations of CHARGE association. Int J Pediatr Otorhinolaryngol. 1995;33:23-42.
24.
24. Tellier AL, Thoophile D, Bonnet D, et al. CHARGE association: report of 47 cases with genotypic analysis of chromosomes 7q36 and 22qll. AmJHum Genet. 1996;59:A20-A20.
25.
25. Russell-Eggitt IM, Blake KD, Taylor DSI, Wyse RKH. The eye in the CHARGE association. BrJ Ophthalmol. 1990;74:421-426.
26.
26. Davenport SLH. Understanding neurologic impairment is key to improved prognosis in CHARGE syndrome. Topics in Pediatrics. 1993;11: 11-14.
27.
27. Davenport SLH, Hefner MA, Thelin JW. CHARGE syndrome. Part 1. External ear anomalies. Int J Pediatr Otorhinolaryngol. 1986;12:137-143.
28.
28. Thelin JW, Mitchell JA, Hefner MA. CHARGE syndrome. Part II. Hearing loss. Int J Pediatr Otorhinolaryngol. 1986;12:145-163.
29.
29. McInnes JM, Treffry JA. Deaf-blind Infants and Children: A Developmental Guide. Milton Keynes: Open University; 1982.
30.
30. Oley CA, Baraitser M, Grant DB. A reappraisal of CHARGE association. J Med Genet. 1988;25:147-156.
31.
31. Byerly KA, Pauli RM. Cranial nerve abnormalities in CHARGE association. JMed Genet. 1993;45:751-757.
32.
32. Lacombe D. Facial palsy and cranial nerve abnormalities in CHARGE association. AmJ Med Genet. 1994;49:351-353.
33.
33. Blake KD, KirkJMW, Ur E. Growth in CHARGE association. Arch Dis Child. 1993;68:508-509.
34.
34. August PA, Rosebaum KN, Friendly D. Hypopituitarism and the CHARGE association. J Pediatr. 1983; 103:424-425.
35.
35. Unpublished database compiled by Meg Hefner and Sandy Davenport, United States, and Kim Blake, United Kingdom.
36.
36. Goldson E, Smith AC, Stewart JM. The CHARGE Association-how well can they do?Am J Dis Child. 1986;140:918-921.
37.
37. Blake KD, Brown D. CHARGE association looking at the future-the voice of a family support group. Childcare Health and Development. 1993;19:395-409.
38.
38. Curatolo P, Libutti G, Brinchi V. Infantile spasms and the CHARGE association. Dev Med Child Neur. 1983; 25:367-373.
39.
39. Lin AE, SiebertJR, Graham JM. Central nervous system malformations in the CHARGE Association. Am J Med Genet. 1990;37:304-310.
40.
40. Harvey AS, Leaper PM, Bankier A. CHARGE association: clinical manifestations and developmental outcome. AmJMed Genet. 1991;39:48-55.
41.
41. Blake KD. Report from New Jersey work shop “Growing up with CHARGE association.”Proc Greenwood Genetics Center. 1997;Vol. 16 (in press).
42.
42. Best C. The ‘new’ deaf-blind?BrJ VisualImpairment. 1983;1:11-13.
43.
43. Bond D. Organisation, Management and Curriculum. In: Sensory Impairments in Mentally Handicapped People. Croom Helm: Beckenham; 1986.
44.
44. Fox AM. The effects of combined vision and hearing loss on the attainment of developmental milestones. Proceedings of the first Canadian Conference on the Education and Development of Deaf-Blind Infants and Children. Brantford, Ontario: The W. Ross MacDonald School; 1983.
45.
45. Siebert JR, Graham JM, MacDonald C. Pathological features of the CHARGE association; support for involvement of the neural crest. Teratology. 1985; 31:331-336.
46.
46. Collum LMT. Uveal colobomata and other anomalies in three generations of one family. Br J Ophthalmol. 1971;55:458-461.
47.
47. Ho CK, Kaufman RL, Podos SM. Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs. J Med Genet. 1975;55:458-461.
48.
48. Warburg M. Ocular colobomata and multiple congenital anomalies: the CHARGE association. Ophthalmol Paediatr Genet. 1983;2:189-199.
