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BMC Ophthalmology

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Open Access 01-12-2014 | Case report

Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)

Authors: Yi-Hsing Chen, Ming-Hui Sun, Shao-Hsuan Hsia, Chi-Chun Lai, Wei-Chi Wu

Published in: BMC Ophthalmology | Issue 1/2014

Abstract

Background

Kabuki syndrome is a multi-system disorder with peculiar facial features, and ophthalmic abnormalities are frequently involved. This case report of a child with Kabuki syndrome describes two new previously unreported ophthalmic conditions.

Case presentation

A 3-year-old Taiwanese boy with Kabuki syndrome had a short stature, spinal dysraphism, intellectual disability and typical facial features. Ophthalmic findings which have been previously reported in the literature and in this patient, included ptosis, esotropia, coloboma of the iris, retina, choroid and optic disc, and microcornea. The newly identified ophthalmic features in this patient included colobomatous microphthalmos and a dysplastic and elevated disc without central cupping. The genetic analysis identified an MLL2 gene mutation.

Conclusion

The presentations of a dysplastic disc and colobomatous microphthalmia are rarely reported in patients with Kabuki syndrome, but these ophthalmic abnormalities may affect vision. Detailed ophthalmic evaluations in children with Kabuki syndrome are advised.

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The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2415/14/143/prepub

Title: Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)
Authors: Yi-Hsing Chen
Ming-Hui Sun
Shao-Hsuan Hsia
Chi-Chun Lai
Wei-Chi Wu
Publication date: 01-12-2014
Publisher: BioMed Central
Published in: BMC Ophthalmology / Issue 1/2014
Electronic ISSN: 1471-2415
DOI: https://doi.org/10.1186/1471-2415-14-143

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)

Abstract

Background

Case presentation

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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