Cerebellar Heterotopias: Expanding the Phenotype of Cerebellar Dysgenesis in CHARGE Syndrome

References

1. 1.↵
   1. Vissers LE,
   2. van Ravenswaaij CM,
   3. Admiraal R, et al

   . Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 2004;36:955–57 doi:10.1038/ng1407 pmid:15300250

   CrossRefPubMedWeb of Science
2. 2.↵
   1. Blake KD,
   2. Davenport SL,
   3. Hall BD, et al

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

   CrossRefPubMed
3. 3.↵
   1. Amiel J,
   2. Attieé-Bitach T,
   3. 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 doi:10.1002/1096-8628(20010301)99:2<124::aid-ajmg1114>3.0.co;2-9 pmid:11241470

   CrossRefPubMedWeb of Science
4. 4.↵
   1. Verloes A.

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

   CrossRefPubMed
5. 5.↵
   1. Yu T,
   2. Meiners LC,
   3. Danielsen K, et al

   . Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome. Elife 2013;2:e01305 doi:10.1002/ajmg.a.30559 pmid:24368733

   CrossRefPubMed
6. 6.↵
   1. Sohn YB,
   2. Ko JM,
   3. Shin CH, et al

   . Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients. J Hum Genet 2016;61:235–39 doi:10.1038/jhg.2015.135 pmid:26538304

   CrossRefPubMed
7. 7.↵
   1. Fujita K,
   2. Aida N,
   3. Asakura Y, et al

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

   Abstract/FREE Full Text
8. 8.↵
   1. Natung T,
   2. Goyal A,
   3. Handique A, et al

   . Symmetrical chorioretinal colobomata with craniovertebral junction anomalies in CHARGE syndrome: a case report with review of literature. J Clin Imaging Sci 2014;4:5 doi:10.4103/2156-7514.126046 pmid:24678437

   CrossRefPubMed
9. 9.↵
   1. Hoch MJ,
   2. Patel SH,
   3. Jethanamest D, et al

   . Head and neck MRI findings in CHARGE syndrome. AJNR Am J Neuroradiol 2017;38:2357–63 doi:10.3174/ajnr.A5297 pmid:28705814

   Abstract/FREE Full Text
10. 10.↵
    1. Mahdi E,
    2. Whitehead MT.

    Coronal clival cleft in CHARGE syndrome. Neuroradiol J 2017;30:574–77 doi:10.1177/1971400916678248 pmid:28059674

    CrossRefPubMed
11. 11.↵
    1. Mahdi ES,
    2. Whitehead MT.

    Clival malformations in CHARGE syndrome. AJNR Am J Neuroradiol 2018;39:1153–56 doi:10.3174/ajnr.A5612 pmid:29622552

    Abstract/FREE Full Text
12. 12.↵
    1. de Geus CM,
    2. Bergman JEH,
    3. van Ravenswaaij-Arts CM, et al

    . Imaging of clival hypoplasia in CHARGE syndrome and hypothesis for development: a case-control study. AJNR Am J Neuroradiol 2018;39:1938–42 doi:10.3174/ajnr.A5810 pmid:30237300

    Abstract/FREE Full Text
13. 13.↵
    1. Adam MP,
    2. Pagon RA,
    3. Ardinger HH, et al.

    1. Lalani SR,
    2. Hefner MA,
    3. Belmont JW, et al

    . CHARGE syndrome. In: Adam MP, Pagon RA, Ardinger HH, et al., eds. GeneReviews. Seattle: University of Washington; 2012
14. 14.↵
    1. Rorke LB,
    2. Fogelson MH,
    3. Riggs HE.

    Cerebellar heterotopia in infancy. Dev Med Child Neurol 1968;10:644–50 doi:10.1111/j.1469-8749.1968.tb02951.x pmid:5708285

    CrossRefPubMedWeb of Science
15. 15.↵
    1. Legendre M,
    2. Gonzales M,
    3. Goudefroye G, et al

    . Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. J Med Genet 2012;49:698–707 doi:10.1136/jmedgenet-2012-100926 pmid:23024289

    Abstract/FREE Full Text
16. 16.↵
    1. Lin AE,
    2. Chin AJ,
    3. Devine W, et al

    . The pattern of cardiovascular malformation in the CHARGE association. Am J Dis Child 1987;141:1010–13 doi:10.1001/archpedi.1987.04460090087034 pmid:2441595

    CrossRefPubMed
17. 17.↵
    1. Patel S,
    2. Barkovich AJ.

    Analysis and classification of cerebellar malformations. AJNR Am J Neuroradiol 2002;23:1074–87 pmid:12169461

    Abstract/FREE Full Text
18. 18.↵
    1. Barkovich AJ,
    2. Millen KJ,
    3. Dobyns WB.

    A developmental and genetic classification for midbrain-hindbrain malformations. Brain 2009;132:3199–230 doi:10.1093/brain/awp247 pmid:19933510

    CrossRefPubMedWeb of Science
19. 19.↵
    1. Salvati A,
    2. Dicuonzo F,
    3. Carella A, et al

    . A case of isolated focal cerebellar heterotopia in a patient affected by HHT: MR and MR spectroscopy findings. J Neurol Neurophysiol 2010;01:107 doi:10.4172/2155-9562.1000107

    CrossRef
20. 20.↵
    1. Brun A.

    Zur Kenntnis der Bildungsfehler des Kleinhirns; Epikritische Bemerkungen zur Entwicklungspathologie, Morphologie und Klinik der umschriebenen Entwicklung-shemmungen des Neozerebellums. Schweiz Arch Neurol Psych 1917;1:48–105
21. 21.↵
    1. Demaerel P.

    Abnormalities of cerebellar foliation and fissuration: classification, neurogenetics and clinicoradiological correlations. Neuroradiology 2002;44:639–46 doi:10.1007/s00234-002-0783-1 pmid:12185541

    CrossRefPubMedWeb of Science
22. 22.↵
    1. Millen KJ,
    2. Millonig JH,
    3. Wingate RJ, et al

    . Neurogenetics of the cerebellar system. J Child Neurol 1999;14:574–82 doi:10.1177/088307389901400905 pmid:10488902

    CrossRefPubMedWeb of Science
23. 23.↵
    1. Sudarov A,
    2. Joyner AL.

    Cerebellum morphogenesis: the foliation pattern is orchestrated by multi-cellular anchoring centers. Neural Dev 2007;2:26 doi:10.1186/1749-8104-2-26 pmid:18053187

    CrossRefPubMed
24. 24.↵
    1. Kuwamura M,
    2. Shirota A,
    3. Yamate J, et al

    . Analysis of aberrant neuronal migrations in the hereditary cerebellar vermis defect (CVD) rat using bromodeoxyuridine immunohistochemistry. Acta Neuropathol 1998;95:143–48 doi:10.1007/s004010050778 pmid:9498048

    CrossRefPubMed
25. 25.↵
    1. Kuramoto T,
    2. Kuwamura M,
    3. Serikawa T.

    Rat neurological mutations cerebellar vermis defect and hobble are caused by mutations in the netrin-1 receptor gene Unc5h3. Brain Res Mol Brain Res 2004;122:103–08 doi:10.1016/j.molbrainres.2003.12.003 pmid:15010202

    CrossRefPubMed