Absent Semicircular Canals in CHARGE Syndrome: Radiologic Spectrum of Findings

References

1. ↵
   Hall BD. Choanal atresia and associated multiple anomalies. J Pediatr 1979;95:395–98

   CrossRefPubMedWeb of Science
2. ↵
   Hittner HM, Hirsch NJ, Kreh GM, et al. Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation–a syndrome. J Pediatr Ophthalmol Strabismus 1979;16:122–28

   PubMedWeb of Science
3. ↵
   Pagon RA, Graham J, Zonana J, et al. Coloboma, congenital heart disease and choanal atresia with multiples anomalies: CHARGE association. J Pediatr 1981;99:223–27

   CrossRefPubMedWeb of Science
4. ↵
   August GP, Rosenbaum KN, Friendly D. Hypopituitarism and the CHARGE association. J Pediatr 1983;103:424–25

   CrossRefPubMedWeb of Science
5. Meinecke P, Polke A, Schmiegelow P. Limb anomalies in the CHARGE association. J Med Genet 1989;26:202–34

   Abstract/FREE Full Text
6. Asher BJ, Mc Gill TJI, Kaplan L, et al. Airway complications in CHARGE association. Arch Otolaryngol Head Neck Surg 1990;116:594–95

   CrossRefPubMedWeb of Science
7. Lin AE, Siebert JR, Graham JM Jr. Central nervous system malformation in the CHARGE association. Am J Med Genet 1990;37:304–10

   CrossRefPubMedWeb of Science
8. Marin JF, Garcia B, Quintana A, et al. The CHARGE association and athyreosis. J Med Genet 1991;28:207–08

   Abstract/FREE Full Text
9. Kutiyanawala M, Wyse RK, Brereton RJ, et al. The CHARGE association and oesophagial atresia. J Pediatr Surg 1992;27:558–60

   PubMedWeb of Science
10. Kushnick T, Wiley JE, Palmer. Agonadism in a 46, XY patient with CHARGE association. Am J Med Genet 1992;42:96–99

    CrossRefPubMedWeb of Science
11. Byerli KA, Pauli RM. Cranial nerve abnormalities in CHARGE association. Am J Med Genet 1993;45:751–57

    CrossRefPubMedWeb of Science
12. ↵
    Lacombe D. Facial palsy and cranial abnormalities in CHARGE association. Am J Med Genet 1994;49:351–52

    CrossRefPubMedWeb of Science
13. ↵
    Verloes A. Updated diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet A 2005;133:306–08

    PubMed
14. ↵
    Davenport SLH, Hefner MA, Thelin JW. CHARGE syndrome. I. External ear anomalies. Int J Ped Otorhinolaryngol 1986;12:137–43

    CrossRef
15. Morgan D, Bailey M, Phelps P, et al. Ear-nose-throat abnormalities in the CHARGE association. Arch Otolaryngol Head Neck Surg 1993;119:49–54

    CrossRefPubMedWeb of Science
16. ↵
    Murofushi T, Ouvrier RA, Parker GD, et al. Vestibular abnormalities in CHARGE association. Ann Otol Rhinol Laryngol 1997;106:129–34

    Abstract/FREE Full Text
17. ↵
    Lemmerling M, Dhooge I, Mollet P, et al. CT of the temporal bone in the CHARGE association. Neuroradiology 1998;40:462–65

    CrossRefPubMedWeb of Science
18. ↵
    Wright CG, Brown OE, Meyerhoff WL, et al. Auditory and temporal bone abnormalities in CHARGE association. Ann Otol Rhinol Laryngol 1986;95:480–86

    PubMedWeb of Science
19. ↵
    Tellier AL, Cormier-Daire V, Abadie V, et al. CHARGE syndrome: report of 47 cases and review. Am J Med Genet 1998;76:402–09

    CrossRefPubMedWeb of Science
20. ↵
    Mondini C. Minor works of Carlo Mondini: the anatomical section of a boy born deaf. Am J Otol 1997;18:288–93

    CrossRefPubMed
21. ↵
    Abadie V, Wiener-Vacher S, Morisseau-Durand MP, et al. Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development. Eur J Pediatr 2000;159:569–74

    CrossRefPubMedWeb of Science
22. ↵
    Amiel J, Attie-Bitach T, Marianowski R, et al. Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome. Am J Med Genet 2001;99:124–27

    CrossRefPubMedWeb of Science
23. ↵
    Satar B, Mukherji SK, Telian SA. Congenital aplasia of the semicircular canals. Otol Neurotol 2003;24:437–46

    CrossRefPubMedWeb of Science
24. ↵
    Marsot-Dupuch K, Gayet-Delacroix M, Elmaleh-Bergès M, et al. The petrosquamosal sinus: CT and MR findings of a rare emissary vein. AJNR Am J Neuroradiol 2001;22:1186–93

    Abstract/FREE Full Text
25. ↵
    Jackler RK, Luxford WM, House WF. Congenital malformations of the inner ear: a classification based on embryogenesis. Laryngoscope 1987;97(Suppl 40):2–14
26. ↵
    Couly GF, Coltey PM, Le Douarin NM. The triple origin of skull in higher vertebrates: a study in quail-chick chimeras. Development 1993;117:409–29

    Abstract
27. ↵
    Tellier AL, Lyonnet S, Cormier-Daire V, et al. Increased paternal age in CHARGE association. Clin Genet 1996;50:548–50

    PubMedWeb of Science
28. ↵
    Blake KD, Ratcliffe JM, Wyse RK. CHARGE association in two monozygous triplets. Int J Cardiol 1989;25:339–41

    CrossRefPubMed
29. ↵
    Mitchell JA, Giangiacomo J, Hefner MA, et al. Dominant CHARGE association. Ophthalmic Paediatr Genet 1985;6:271–76

    PubMed
30. ↵
    Rinkwitz S, Bober E, Baker R. Development of the vertebrate inner ear. Ann N Y Acad Sci 2001;942:1–14

    CrossRefPubMedWeb of Science
31. ↵
    Salminen M, Meyer BI, Bober E. Netrin 1 is required for semicircular canal formation in the mouse inner ear. Development 2000;127:13–22

    Abstract
32. Morsli H, Tuorto F, Choo D, et al. Otx1 and Otx2 activities are required for normal development of the mouse inner ear. Development 1999;126:2335–43

    Abstract
33. Wang W, Chan EK, Baron S, et al. Hmx2 homeobox gene control of murine vestibular morphogenesis. Development 2001;128:5017–29
34. Wang W, Van De Water T, Lufkin T. Inner ear and maternal reproductive defects in mice lacking the Hmx3 homeobox gene. Development 1998;125:621–34

    Abstract
35. Li Y, Xiang J, Duan C. Insulin-like growth factor-binding protein-3 plays an important role in regulating pharyngeal skeleton and inner ear formation and differentiation. J Biol Chem 2005;280:3613–20

    Abstract/FREE Full Text
36. Merlo GR, Paleari L, Mantero S, et al. The Dlx5 homeobox gene is essential for vestibular morphogenesis in the mouse embryo through a BMP4-mediated pathway. Dev Biol 2002;248:157–69

    CrossRefPubMedWeb of Science
37. ↵
    Ozaki H, Nakamura K, Funahashi J, et al. Six1controls patterning of the mouse otic vesicle. Development 2003;131:551–62
38. ↵
    Lalani SR, Stockton DW, Bacino C, et al. Toward a genetic etiology of charge syndrome: I. A systematic scan for submicroscopic deletions. Am J Med Genet 2003;118A:260–66
39. Tellier AL, Amiel J, Delezoide AL, et al. Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome. Am J Med Genet 2000;93:85–88

    CrossRefPubMedWeb of Science
40. ↵
    Martin DM, Probst FJ, Fox SE, et al. Exclusion of PITX2 mutations as a major cause of CHARGE association. Am J Med Genet 2002;111:27–30

    CrossRefPubMed
41. ↵
    Vissers LELM, van Ravenswaaij CMA, Admiraal R, et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 2004;36:955–57

    CrossRefPubMedWeb of Science
42. ↵
    Williams MS. Speculations on the pathogenesis of CHARGE syndrome. Am J Med Genet A 2005;133:318–25

    PubMed
43. ↵
    Lambert PR. Congenital absence of the oval window. Laryngoscope 1990;100:37–40

    PubMed
44. ↵
    Shelton C, Luxford WM, Tonokawa LL, et al. The narrow internal auditory canal in children: a contraindication to cochlear implants. Otolaryngol Head Neck Surg 1989;100:227–31

    PubMedWeb of Science
45. ↵
    Glastonbury CM, Davidson HC, Harnsberger HR, et al. Imaging findings of cochlear nerve deficiency. AJNR Am J Neuroradiol 2002;23:635–43

    Abstract/FREE Full Text
46. ↵
    Dahlen RT, Harnsberger HR, Gray SD, et al. Overlapping thin-section fast spin-echo MR of the large vestibular aqueduct syndrome. AJNR Am J Neuroradiol 1997;18:67–75

    Abstract
47. ↵
    Wiener-Vacher SR, Amanou L, Denise P, et al. Vestibular function in children with the CHARGE association. Arch Otolaryngol Head Neck Surg 1999;125:342–47

    PubMedWeb of Science
48. ↵
    Abadie V, Wiener-Vacher S, Morisseau-Durand MP, et al. Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development. Eur J Pediatr 2000;159:569–74

    CrossRefPubMedWeb of Science
49. ↵
    Edwards BM, Van Riper LA, Kileny PR. Clinical manifestations of CHARGE Association. Int J Pediatr Otorhinolaryngol 1995;33:23–42

    CrossRefPubMedWeb of Science
50. ↵
    Ito K, Suzuki S, Murofushi T, et al. Neuro-otologic findings in unilateral isolated narrow internal auditory meatus. Otol Neurotol 2005;26:767–72

    CrossRefPubMedWeb of Science
51. ↵
    Papsin BC. Cochlear implantation in children with anomalous cochleovestibular anatomy. Laryngoscope 2005;115(Suppl 106):1–26
52. ↵
    Parry DA, Booth T, Roland PS. Advantages of magnetic resonance imaging over computed tomography in preoperative evaluation of pediatric cochlear implant candidates. Otol Neurotol 2005;26:976–82

    CrossRefPubMedWeb of Science
53. ↵
    Blake KD, Davenport SLH, Hall BD, et al. CHARGE association: an update and review for the primary pediatrician. Clin Pediatr 1998;37:159–74

    Abstract/FREE Full Text