Unilateral Semicircular Canal Aplasia in Goldenhar's Syndrome

References

1. ↵
   Goldenhar M. Associations malformatives de l'oeil et l'oreille, en particulier le syndrome dermoide épibulbaire-appendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale. J Genet Hum 1952;1:243-282
2. ↵
   Gorlin RJ, Cohen MM, Levin LS. Syndromes of the Head and Neck.. New York: Oxford University Press 1990 641-646
3. ↵
   Rollnick BR, Kaye CI. Hemifacial microsomia and variants: pedigree data. Am J Med Genet 1983;15:233-253

   CrossRefPubMed
4. ↵
   Kobrynski L, Chitayat D, Zahed L, et al. Trisomy 22 and facioauriculovertebral sequence. Am J Med Genet 1993;46:68-71

   CrossRefPubMed
5. ↵
   Manfré L, Genuardi P, Tortorici M, Lagalla R. Absence of the common crus in Goldenhar syndrome. AJNR Am J Neuroradiol 1997;18:773-775

   Abstract/FREE Full Text
6. ↵
   Phelps PD, Lloyd GAS, Poswillo DE. The ear deformities in craniofacial microsomia and oculo-auriculo-vertebral dysplasia. J Laryngol Otol 1983;97:995-1005

   CrossRefPubMed
7. ↵
   Pagon RA, Graham JM, Zonana J, Yong S-L. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies. J Pediatr 1981;99:223-227

   CrossRefPubMedWeb of Science
8. ↵
   Davenport SLH, Hefner MA, Mitchell JA. The spectrum of clinical features in CHARGE syndrome. Clin Genet 1986;29:298-310

   PubMedWeb of Science
9. Lemmerling M, Dhooge I, Mollet P, Mortier G, Van Cauwenberge P, Kunnen M. CT of the temporal bone in the CHARGE association. Neuroradiology 1998;40:462-465

   CrossRefPubMedWeb of Science
10. ↵
    Townes PL, White MR. Inherited partial trisomy 8q (22-qter). Am J Dis Child 1978;132:498-501

    CrossRefPubMed
11. Clementi M, Tenconi R, Turolla L, Silvan C, Bortotto L, Artifoni L. Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome. Am J Med Genet 1991;41:246-250

    CrossRefPubMedWeb of Science
12. Emanuel BS, Budarf ML, Sellinger B, Golsmuntz E, Driscoll DA. Detection of microdeletions of 22q11.2 with FISH: diagnosis of DiGeorge syndrome, velo-cardio-facial syndrome, CHARGE association and conotruncal cardiac malformations. Am J Hum Genet 1992;51:A3
13. North KN, Wu BL, Cao BN, Whiteman DAH, Korf BR. CHARGE association in a child with de novo inverted duplication. Am J Med Genet 1995;57:610-614

    CrossRefPubMedWeb of Science
14. ↵
    Parnes LS, Chernoff WG. Bilateral semicircular canal aplasia with near-normal cochlear development. Ann Otol Rhinol Laryngol 1990;99:957-959

    CrossRefPubMedWeb of Science
15. Hill J, Elliot C, Colquhoun I. Audiological, vestibular and radiological abnormalities in Kallman's syndrome. J Laryngol Otol 1992;106:530-534

    CrossRefPubMed
16. ↵
    Cortez AB, Galindo A, Arensman FW, Van Dop C. Congenital heart disease associated with sporadic Kallmann syndrome. Am J Med Genet 1993;46:551-554

    CrossRefPubMedWeb of Science
17. ↵
    Levy CM, Knudtzon J. Kallmann syndrome in two sisters with other developmental anomalies also affecting their father. Clin Genet 1993;43:51-53

    PubMed
18. ↵
    Klein VR, Friedman JM, Brookshire GS, Brown OE, Edman CD. Kallmann syndrome associated with choanal atresia. Clin. Genet 1987;31:224-227

    PubMedWeb of Science
19. ↵
    Van Meter TD, Weaver DD. Oculo-auriculo-vertebral spectrum and the CHARGE association: clinical evidence for a common pathogenetic mechanism. Clin Dysmorph 1996;5:187-196