Cranial Nerve Abnormalities in Oculo-Auriculo-Vertebral Spectrum

REFERENCES

1. 1.↵
   Online Mendelian Inheritance in Man. Goldenhar syndrome. McKusick-Nathans Institute for Genetic Medicine, John Hopkins University (Baltimore) and National Center for Biotechnology Information, National Library of Medicine (Baltimore). http://www.omim.org/entry/164210?search=goldenhar%20syndrome&highlight=goldenhar%20syndrome%20syndromic. Accessed September 12, 2009.
2. 2.↵
   2. Poswillo D

   . Otomandibular deformity: pathogenesis as a guide to reconstruction. J Maxillofac Surg 1974;2:64–72

   CrossRefPubMed
3. 3.↵
   2. Grabb WC

   . The first and second branchial arch syndrome. Plast Reconstr Surg 1965;36:485–508

   CrossRefPubMed
4. 4.↵
   2. Rollnick BR,
   3. Kaye CI,
   4. Nagatoshi K, et al

   . Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients. Am J Med Genet 1987;26:361–75

   CrossRefPubMedWeb of Science
5. 5.↵
   2. Mastroiacovo P,
   3. Corchia C,
   4. Botto LD, et al

   . Epidemiology and genetics of microtia-anotia: a registry based study on over one million births. J Med Genet 1995;32:453–57

   Abstract/FREE Full Text
6. 6.↵
   2. Goldenhar M

   . Associations malformatives de l'oeil et de l'oreille en particulaire, le syndrome dermoide epibulbaire-appendices auriculares-fistula auris congenital et ses relations avec le dysostose mandibulo-faciale. J Genet Hum 1952;1:243–82
7. 7.↵
   2. Ala-Mello S,
   3. Siggberg L,
   4. Knuutila S, et al

   . Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly. Am J Med Genet A 2008;146A:2490–94
8. 8.↵
   2. Rooryck C,
   3. Stef M,
   4. Burgelin I, et al

   . Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene. Eur J Med Genet 2009;52:446–49

   CrossRefPubMed
9. 9.↵
   2. Ballesta-Martínez MJ,
   3. López-González V,
   4. Dulcet LA, et al

   . Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication. Am J Med Genet A 2013;161A:2030–35

   CrossRef
10. 10.↵
    2. Torti EE,
    3. Braddock SR,
    4. Bernreuter K, et al

    . Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: a unique double rearrangement. Am J Med Genet A 2013;161A:1992–98

    CrossRef
11. 11.↵
    2. Ottaviano G,
    3. Calzolari F,
    4. Martini A

    . Goldenhar syndrome in association with agenesia of the internal carotid artery. Int J Pediatr Otorhinolaryngol 2007;71:509–12

    CrossRefPubMed
12. 12.↵
    2. Hartsfield JK

    . Review of the etiologic heterogeneity of the oculo-auriculo-vertebral spectrum (hemifacial microsomia). Orthod Craniofac Res 2007;10:121–28

    CrossRefPubMedWeb of Science
13. 13.↵
    2. Sugar HS

    . The oculoauriculovertebral dysplasia syndrome of Goldenhar. Am J Ophthalmol 1966;62:678–82

    CrossRefPubMedWeb of Science
14. 14.↵
    2. van Bijsterveld OP

    . Unilateral corneal anesthesia in oculoauriculovertebral dysplasia. Arch Ophthalmol 1969;82:189–90

    CrossRefPubMed
15. 15.↵
    2. Bowen DI,
    3. Collum LM,
    4. Rees DO

    . Clinical aspects of oculo-auriculo-vertebral dysplasia. Br J Ophthalmol 1971;55:145–54

    FREE Full Text
16. 16.↵
    2. Budden SS,
    3. Robinson GC

    . Oculoauricular vertebral dysplasia: its association with sensorineural deafness and other abnormalities. Am J Dis Child 1973;125:431–33

    CrossRefPubMed
17. 17.↵
    2. Aleksic S,
    3. Budzilovich G,
    4. Reuben R, et al

    . Congenital trigeminal neuropathy in oculoauriculovertebral dysplasia-hemifacial microsomia (Goldenhar-Gorlin syndrome). J Neurol Neurosurg Psychiatry 1975;38:1033–35

    Abstract/FREE Full Text
18. 18.↵
    2. Nappi G,
    3. Alfonsi E,
    4. Bono G, et al

    . Goldenhar-Gorlin syndrome: a case with congenital trigeminal neuropathy. Acta Neurol (Napoli) 1983;5:368–72

    PubMed
19. 19.↵
    2. Villanueva O,
    3. Atkinson DS,
    4. Lambert SR

    . Trigeminal nerve hypoplasia and aplasia in children with Goldenhar syndrome and corneal hypoesthesia. J AAPOS 2005;9:202–04

    CrossRefPubMedWeb of Science
20. 20.↵
    2. Miller MT

    . Association of Duane retraction syndrome with craniofacial malformations. J Craniofac Genet Dev Biol Suppl 1985;1:273–82

    PubMed
21. 21.↵
    2. Dastur YK,
    3. Trivedi H,
    4. Tapaswi N, et al

    . Goldenhar's syndrome with unilateral Duane retraction syndrome and “butterfly” vertebra. Indian J Ophthalmol 1985;33:187–89

    PubMed
22. 22.↵
    2. Mansour AM,
    3. Wang F,
    4. Henkind P, et al

    . Ocular findings in the facioauriculovertebral sequence (Goldenhar-Gorlin syndrome). Am J Ophthalmol 1985;100:555–59

    CrossRefPubMed
23. 23.↵
    2. Miller NR,
    3. Kiel SM,
    4. Green WR, et al

    . Unilateral Duane retraction syndrome (type 1). Arch Ophthalmol 1982;100:1468

    CrossRefPubMedWeb of Science
24. 24.↵
    2. Baum J,
    3. Feingold M

    . Ocular aspects of Goldenhar syndrome. Am J Ophthalmol 1973;75:250–57

    CrossRefPubMedWeb of Science
25. 25.↵
    2. Mittelman D,
    3. Herbst R,
    4. Miller M

    . The many faces of Goldenhar syndrome. In: Proceedings of the Annual Meeting of the American Medical Association, New York. June 1973
26. 26.↵
    2. Vélez G

    . Duane's retraction syndrome associated with Goldenhar's syndrome. Am J Ophthalmol 1970;70:945–46

    CrossRefPubMed
27. 27.↵
    2. Yan F,
    3. Li J,
    4. Xian J, et al

    . The cochlear nerve canal and internal auditory canal in children with normal cochlea but cochlear nerve deficiency. Acta Radiol 2013;54:292–98

    Abstract/FREE Full Text
28. 28.↵
    2. Panzer S,
    3. Cohen M,
    4. Esch U, et al

    . Radiological evidence of Goldenhar syndrome in a paleopathological case from a South German ossuary. Homo 2008;59:453–61

    CrossRefPubMed
29. 29.↵
    2. Verzijl HT,
    3. Valk J,
    4. de Vries R, et al

    . Radiologic evidence for absence of the facial nerve in Möbius syndrome. Neurology 2005;64:849–55

    CrossRefPubMed
30. 30.↵
    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

    CrossRefPubMed
31. 31.↵
    2. Vincenti V,
    3. Ormitti F,
    4. Ventura E, et al

    . Cochlear implantation in children with cochlear nerve deficiency. Int J Pediatr Otorhinolaryngol 2014;78:912–17

    CrossRefPubMed
32. 32.↵
    2. Warren FM 3rd.,
    3. Wiggins RH 3rd.,
    4. Pitt C, et al

    . Apparent cochlear nerve aplasia: to implant or not to implant? Otol Neurotol 2010;31:1088–94

    CrossRefPubMed
33. 33.↵
    2. Deggouj N,
    3. Gersdorff M,
    4. Garin P, et al

    . Today's indications for cochlear implantation. B-ENT 2007;3:9–14

    PubMed