Literature DB >> 21461228

Strabismus and poor stereoacuity associated with Kabuki syndrome.

Nam Gil Kim1, Hyon J Kim, Jeong-Min Hwang.   

Abstract

Kabuki syndrome is characterized by long palpebral fissures, large ears, a depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. There have been few prior detailed descriptions of strabismus or stereopsis in these patients. We report a patient with Kabuki syndrome who showed small-angle strabismus and poor stereopsis. This case illustrates the need for patients with a diagnosis of Kabuki syndrome to have an ophthalmologic evaluation. Strabismus associated with Kabuki syndrome may have a small angle that can be easily overlooked.
© 2011 The Korean Ophthalmological Society

Entities:  

Keywords:  Kabuki syndrome; Stereoacuity; Strabismus

Mesh:

Year:  2011        PMID: 21461228      PMCID: PMC3060392          DOI: 10.3341/kjo.2011.25.2.136

Source DB:  PubMed          Journal:  Korean J Ophthalmol        ISSN: 1011-8942


  6 in total

Review 1.  Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features.

Authors:  I Kluijt; D B van Dorp; M L Kwee; A Toutain; K Keppler-Noreuil; M Warburg; P Bitoun
Journal:  Ophthalmic Genet       Date:  2000-03       Impact factor: 1.803

Review 2.  Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

Authors:  N Niikawa; Y Kuroki; T Kajii; N Matsuura; S Ishikiriyama; H Tonoki; N Ishikawa; Y Yamada; M Fujita; H Umemoto
Journal:  Am J Med Genet       Date:  1988-11

3.  Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort.

Authors:  Claire Turner; Katherine Lachlan; Nishani Amerasinghe; Peter Hodgkins; Viv Maloney; John Barber; I Karen Temple
Journal:  Eur J Hum Genet       Date:  2005-06       Impact factor: 4.246

4.  Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.

Authors:  S M White; E M Thompson; A Kidd; R Savarirayan; A Turner; D Amor; M B Delatycki; M Fahey; A Baxendale; S White; E Haan; K Gibson; J L Halliday; A Bankier
Journal:  Am J Med Genet A       Date:  2004-06-01       Impact factor: 2.802

Review 5.  Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature.

Authors:  D Geneviève; J Amiel; G Viot; M Le Merrer; D Sanlaville; A Urtizberea; M Gérard; A Munnich; V Cormier-Daire; Stanislas Lyonnet
Journal:  Am J Med Genet A       Date:  2004-08-15       Impact factor: 2.802

Review 6.  Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.

Authors:  Jeffrey E Ming; Karen L Russell; Lynn Bason; Donna M McDonald-McGinn; Elaine H Zackai
Journal:  Am J Med Genet A       Date:  2003-12-15       Impact factor: 2.802

  6 in total
  2 in total

Review 1.  Ocular involvement in primary immunodeficiency diseases.

Authors:  Sima Hosseinverdi; Hassan Hashemi; Asghar Aghamohammadi; Hans D Ochs; Nima Rezaei
Journal:  J Clin Immunol       Date:  2013-11-30       Impact factor: 8.542

2.  A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome.

Authors:  Soo Jin Kim; Sung Yoon Cho; Se Hyun Maeng; Young Bae Sohn; Su-Jin Kim; Chang-Seok Ki; Dong-Kyu Jin
Journal:  Korean J Pediatr       Date:  2013-08-27
  2 in total

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