Head and Neck MRI Findings in CHARGE Syndrome

References

1. 1.↵
   2. Hall BD

   . Choanal atresia and associated multiple anomalies. J Pediatr 1979;95:395–98 doi:10.1016/S0022-3476(79)80513-2 pmid:469662

   CrossRefPubMedWeb of Science
2. 2.↵
   2. Hittner HM,
   3. Hirsch NJ,
   4. Kreh GM, et al

   . Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation: a syndrome. J Pediatr Ophthalmol Strabismus 1979;16:122–28 pmid:458518

   PubMedWeb of Science
3. 3.↵
   2. Blake KD,
   3. Davenport SL,
   4. Hall BD, et al

   . CHARGE association: an update and review for the primary pediatrician. Clin Pediat (Phila) 1998;37:159–73 doi:10.1177/000992289803700302 pmid:9545604

   CrossRefPubMed
4. 4.↵
   2. Issekutz KA,
   3. Graham JM Jr.,
   4. Prasad C, et al

   . An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. Am J Med Genet A 2005;133A:309–17 pmid:15637722

   PubMed
5. 5.↵
   2. Jongmans M,
   3. Admiraal R,
   4. van der Donk KP, et al

   . CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet 2006;43:306–14 pmid:16155193

   Abstract/FREE Full Text
6. 6.↵
   2. Lalani SR,
   3. Safiullah AM,
   4. Fernbach SD, et al

   . Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet 2006;78:303–14 doi:10.1086/500273 pmid:16400610

   CrossRefPubMedWeb of Science
7. 7.↵
   2. Pagon RA,
   3. Graham JM Jr.,
   4. Zonana J, et al

   . Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 1981;99:223–27 doi:10.1016/S0022-3476(81)80454-4 pmid:6166737

   CrossRefPubMedWeb of Science
8. 8.↵
   2. Verloes A

   . Updated diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet A 2005;133A:306–08 doi:10.1002/ajmg.a.30559 pmid:15666308

   CrossRefPubMed
9. 9.↵
   2. Morimoto AK,
   3. Wiggins RH 3rd.,
   4. Hudgins PA, et al

   . Absent semicircular canals in CHARGE syndrome: radiologic spectrum of findings. AJNR Am J Neuroradiol 2006;27:1663–71 pmid:16971610

   Abstract/FREE Full Text
10. 10.↵
    2. Admiraal RJ,
    3. Joosten FB,
    4. Huygen PL

    . Temporal bone CT findings in the CHARGE association. Int J Pediatr Otorhinolaryngol 1998;45:151–62 doi:10.1016/S0165-5876(98)00102-5 pmid:9849683

    CrossRefPubMed
11. 11.↵
    2. Lemmerling M,
    3. Dhooge I,
    4. Mollet P, et al

    . CT of the temporal bone in the CHARGE association. Neuroradiology 1998;40:462–65 doi:10.1007/s002340050625 pmid:9730349

    CrossRefPubMedWeb of Science
12. 12.↵
    2. Holcomb MA,
    3. Rumboldt Z,
    4. White DR

    . Cochlear nerve deficiency in children with CHARGE syndrome. Laryngoscope 2013;123:793–96 doi:10.1002/lary.23682 pmid:22930484

    CrossRefPubMed
13. 13.↵
    2. Fujita K,
    3. Aida N,
    4. Asakura Y, et al

    . Abnormal basiocciput development in CHARGE syndrome. AJNR Am J Neuroradiol 2009;30:629–34 doi:10.3174/ajnr.A1380 pmid:19112063

    Abstract/FREE Full Text
14. 14.↵
    2. Adunka OF,
    3. Roush PA,
    4. Teagle HF, et al

    . Internal auditory canal morphology in children with cochlear nerve deficiency. Otol Neurotol 2006;27:793–801 doi:10.1097/01.mao.0000227895.34915.94 pmid:16936566

    CrossRefPubMed
15. 15.↵
    2. Blustajn J,
    3. Kirsch CF,
    4. Panigrahy A, et al

    . Olfactory anomalies in CHARGE syndrome: imaging findings of a potential major diagnostic criterion. AJNR Am J Neuroradiol 2008;29:1266–69 doi:10.3174/ajnr.A1099 pmid:18417599

    Abstract/FREE Full Text
16. 16.↵
    1. Som PM,
    2. Curtin HD

    2. Romo LV,
    3. Casselman JW,
    4. Robson CD

    . Temporal bone: congenital anomalies. In: Som PM, Curtin HD, eds. Head and Neck Imaging. Vol 2. 4th ed. St Louis: Mosby; 2003:1119–40
17. 17.↵
    1. Swartz JD,
    2. Loevner LA

    2. Swartz JD,
    3. Loevner LA

    . The inner ear and otodystrophies. In: Swartz JD, Loevner LA, eds. Imaging of the Temporal Bone. 4th ed. New York: Thieme; 2009:298–411
18. 18.↵
    2. Friedmann DR,
    3. Amoils M,
    4. Germiller JA, et al

    . Venous malformations of the temporal bone are a common feature in CHARGE syndrome. Laryngoscope 2012;122:895–900 doi:10.1002/lary.23205 pmid:22314876

    CrossRefPubMed
19. 19.↵
    2. Lin AE,
    3. Siebert JR,
    4. Graham JM

    . Central nervous system malformations in the CHARGE association. Am J Med Genet 1990;37:304–10 doi:10.1002/ajmg.1320370303 pmid:2260555

    CrossRefPubMedWeb of Science
20. 20.↵
    2. Byerly K,
    3. Pauli RM

    . Cranial nerve abnormalities in CHARGE association. Am J Med Gen 1993;45:751–57 doi:10.1002/ajmg.1320450617 pmid:8053985

    CrossRefPubMedWeb of Science
21. 21.↵
    2. Wren MW

    . Significance of the so-called J-shaped sella in the diagnosis of intracranial aneurysm. Br J Ophthal 1969;53:307–09 doi:10.1136/bjo.53.5.307 pmid:4306328

    FREE Full Text
22. 22.↵
    2. Parry DA,
    3. Booth T,
    4. Roland PS

    . Advantages of magnetic resonance imaging over computed tomography in preoperative evaluation of pediatric cochlear implant candidates. Otol Neurotol 2005;26:976–82 doi:10.1097/01.mao.0000185049.61770.da pmid:16151346

    CrossRefPubMedWeb of Science
23. 23.↵
    2. Pinto G,
    3. Abadie R,
    4. Mesnage R, et al

    . CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development. J Clin Endocrinol Metab 2005;90:5621–26 doi:10.1210/jc.2004-2474 pmid:16030162

    CrossRefPubMedWeb of Science
24. 24.↵
    2. Dodé C,
    3. Hardelin JP

    . Kallmann syndrome: fibroblast growth factor signaling insufficiency? J Mol Med (Berl) 2004;82:725–34 doi:10.1007/s00109-004-0571-y pmid:15365636

    CrossRefPubMedWeb of Science
25. 25.↵
    2. Smoker WR

    . Craniovertebral junction: normal anatomy, craniometry, and congenital anomalies. Radiographics 1994;14:255–77 doi:10.1148/radiographics.14.2.8190952 pmid:8190952

    CrossRefPubMed
26. 26.↵
    2. Martin P,
    3. Cushing H

    . Primary gliomas of the chiasm and optic nerves in their intracranial portion. Arch Ophthal (NY) 1923;52:209–41
27. 27.↵
    2. Zafeiriou DI,
    3. Batzios SP

    . Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. AJNR Am J Neuroradiol 2013;34:5–13 doi:10.3174/ajnr.A2832 pmid:22790241

    Abstract/FREE Full Text
28. 28.↵
    2. McDonald FG,
    3. Mantas J,
    4. McEwen CG, et al

    . Salivary gland aplasia: an ectodermal disorder? J Oral Pathol 1986;15:115–17 doi:10.1111/j.1600-0714.1986.tb00588.x pmid:3083061

    CrossRefPubMed
29. 29.↵
    2. Higashino H,
    3. Horii T,
    4. Ohkusa Y, et al

    . Congenital absence of lacrimal puncta and of all major salivary glands: case report and literature review. Clin Pediatr (Phila) 1987;26:366–68 doi:10.1177/000992288702600709 pmid:3595044

    CrossRefPubMed
30. 30.↵
    1. Bergsma D

    2. Cohen M

    . Mandibulofacial dysostosis. In: Bergsma D, ed. Birth Defect. Baltimore: Williams and Wilkins; 1974:465–74
31. 31.↵
    2. Hollister DW,
    3. Klein SH,
    4. De Jager HJ, et al

    . The lacrimo-auriculo-dento-digital syndrome. J Pediatr 1973;83:438–44 doi:10.1016/S0022-3476(73)80268-9 pmid:4725147

    CrossRefPubMedWeb of Science
32. 32.↵
    2. Joshi VM,
    3. Navlekar SK,
    4. Kishore GR, et al

    . CT and MR imaging of the inner ear and brain in children with congenital sensorineural hearing loss. Radiographics 2012;32:683–98 doi:10.1148/rg.323115073 pmid:22582354

    CrossRefPubMed
33. 33.↵
    2. Nie X,
    3. Luukko K,
    4. Kettunen P

    . FGF signalling in craniofacial development and developmental disorders. Oral Dis 2006;12:102–11 doi:10.1111/j.1601-0825.2005.01176.x pmid:16476029

    CrossRefPubMedWeb of Science
34. 34.↵
    2. VanGilder JC,
    3. Menezes AH,
    4. Dolan KD

    . The Craniovertebral Junction and Its Abnormalities. Mount Kisco: Furuta; 1987:113–18