Literature DB >> 10954290

Unilateral semicircular canal aplasia in Goldenhar's syndrome.

M M Lemmerling1, B D Vanzieleghem, G R Mortier, I J Dhooge, M F Kunnen.   

Abstract

A patient with Goldenhar's syndrome (oculoauriculovertebral dysplasia) and unilateral aplasia of all semicircular canals is presented. This is the first report of such a finding and may support the hypothesis that Goldenhar's syndrome and the CHARGE association have a common pathogenetic mechanism.

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Year:  2000        PMID： 10954290      PMCID： PMC8174887     

Source DB:  PubMed          Journal:  AJNR Am J Neuroradiol        ISSN： 0195-6108            Impact factor:   3.825


  16 in total

1.  CT of the temporal bone in the CHARGE association.

Authors:  M Lemmerling; I Dhooge; P Mollet; G Mortier; P Van Cauwenberge; M Kunnen
Journal:  Neuroradiology       Date:  1998-07       Impact factor: 2.804

2.  Absence of the common crus in Goldenhar syndrome.

Authors:  L Manfré; P Genuardi; M Tortorici; R Lagalla
Journal:  AJNR Am J Neuroradiol       Date:  1997-04       Impact factor: 3.825

3.  The ear deformities in craniofacial microsomia and oculo-auriculo-vertebral dysplasia.

Authors:  P D Phelps; G A Lloyd; D E Poswillo
Journal:  J Laryngol Otol       Date:  1983-11       Impact factor: 1.469

4.  Hemifacial microsomia and variants: pedigree data.

Authors:  B R Rollnick; C I Kaye
Journal:  Am J Med Genet       Date:  1983-06

5.  Inherited partial trisomy 8q (22 leads to qter).

Authors:  P L Townes; M R White
Journal:  Am J Dis Child       Date:  1978-05

Review 6.  Trisomy 22 and facioauriculovertebral (Goldenhar) sequence.

Authors:  L Kobrynski; D Chitayat; L Zahed; D McGregor; L Rochon; S Brownstein; M Vekemans; D L Albert
Journal:  Am J Med Genet       Date:  1993-04-01

Review 7.  Congenital heart disease associated with sporadic Kallmann syndrome.

Authors:  A B Cortez; A Galindo; F W Arensman; C Van Dop
Journal:  Am J Med Genet       Date:  1993-06-15

8.  Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome.

Authors:  M Clementi; R Tenconi; L Turolla; C Silvan; L Bortotto; L Artifoni
Journal:  Am J Med Genet       Date:  1991-11-01

9.  Kallmann syndrome associated with choanal atresia.

Authors:  V R Klein; J M Friedman; G S Brookshire; O E Brown; C D Edman
Journal:  Clin Genet       Date:  1987-04       Impact factor: 4.438

10.  CHARGE association in a child with de novo inverted duplication (14)(q22-->q24.3).

Authors:  K N North; B L Wu; B N Cao; D A Whiteman; B R Korf
Journal:  Am J Med Genet       Date:  1995-07-17
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  5 in total

1.  Bilateral posterior semicircular canal aplasia and atypical paroxysmal positional vertigo: a case report.

Authors:  L E Walther; V Nath; G A Krombach; E Di Martino
Journal:  Acta Otorhinolaryngol Ital       Date:  2008-04       Impact factor: 2.124

Review 2.  Imaging of congenital anomalies and acquired lesions of the inner ear.

Authors:  Gabriele A Krombach; Dagmar Honnef; Martin Westhofen; Ercole Di Martino; Rolf W Günther
Journal:  Eur Radiol       Date:  2007-10-10       Impact factor: 5.315

3.  Oculo-auriculo-vertebral spectrum: going beyond the first and second pharyngeal arch involvement.

Authors:  Brotto Davide; Manara Renzo; Ghiselli Sara; Lovo Elisa; Mardari Rodica; Toldo Irene; Castiglione Alessandro; Schifano Giovanni; Stritoni Valentina; Bovo Roberto; Trevisi Patrizia; Martini Alessandro
Journal:  Neuroradiology       Date:  2017-03-01       Impact factor: 2.804

4.  Procedures for restoring vestibular disorders.

Authors:  Leif Erik Walther
Journal:  GMS Curr Top Otorhinolaryngol Head Neck Surg       Date:  2005-09-28

Review 5.  Understanding the Pathophysiology of Congenital Vestibular Disorders: Current Challenges and Future Directions.

Authors:  Kenna D Peusner; Nina M Bell; June C Hirsch; Mathieu Beraneck; Anastas Popratiloff
Journal:  Front Neurol       Date:  2021-09-10       Impact factor: 4.003
  5 in total

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