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. 2014 Nov 24;14:143. doi: 10.1186/1471-2415-14-143

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© Chen et al.; licensee BioMed Central Ltd. 2014

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Photographs of the 3-year-old patient with Kabuki syndrome. (A) The external photograph shows arched eyebrows, epicanthus, ptosis, prominent eyelashes, long palpebral fissures, eversion of the lateral portion of the lower eyelids in both eyes, and depressed nasal tip. (B) The fundus photograph of the right eye shows coloboma of the retina, choroid and disc. (C) The fundus photograph of the left eye shows coloboma of the retina and choroid and an elevated optic disc without central cupping. (D) Computed tomography of the orbit reveals microphthalmia of the right eye and an isodense retrobulbar bulging cystic mass in both eyes. The defect is likely to be related to the colobomatous defect presented in the fundus photograph. No orbital fractures or intraorbital haemorrhages were found.