Ocular Findings in Cri Du Chat Syndrome: A Case Report

Kyoon Kim Sang; Kim Hyoung-Seok; Hyun Kim Seung

doi:10.3341/jkos.2008.49.11.1867

Journal List > J Korean Ophthalmol Soc > v.49(11) > 1008145

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Sang, Hyoung-Seok, and Seung: Ocular Findings in Cri Du Chat Syndrome: A Case Report

Original Article

J Korean Ophthalmol Soc 2008;49(11):1867-1870.

Published online: 7 September 2008

DOI: https://doi.org/10.3341/jkos.2008.49.11.1867

Ocular Findings in Cri Du Chat Syndrome: A Case Report

Kyoon Kim Sang, M.D., Kim Hyoung-Seok, M.D., Hyun Kim Seung, M.D., Ph.D.

Department of Ophthalmology, College of Medicine, Korea University, Seoul, Korea

Address reprint requests to Seung Hyun Kim, M.D., Ph.D. Department of Ophthalmology, Ansan Hospital, Korea University College of Medicine #516 Gojan-dong, Ansan-si, Gyunggi-do 425-707, Korea Tel: 82-31-412-5160, Fax: 82-31-414-8930, E-mail: ansaneye@hanmail.net

Received 14 July 2008 Accepted 3 January 2008

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Purpose

To report the ophthalmologic examination of an infant who has cri du chat syndome with exotropia and facial abnormalities.

Case summary

A 7-month-old infant was confirmed as having cri du chat syndrome by a chromosomal study. He showed mild developmental retardation and eyeball deviation. This male infant underwent ophthalmic evaluations, including an extraocular examination, measurement of deviation, ocular movement test, interepicanthal distance, and fundus examination. As a result, facial abnormalities were found, including telecanthus and epicanthal folds. The infant had intermittent exotropia of 40 prism diopters according to the Hirschberg test and optic atrophy according to the fundus examination.

Conclusions

Cri du chat syndrome manifests with many different ocular symptoms, including hypertelorism, telecanthus, epicanthal folds, and exotropia.

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Keywords: Cri du chat syndrome, Epicanthal folds, Exotropia, Hypertelorism, Telecanthus

References

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Figure 1

. Facial abnormalities including telecanthus, epicanthal folds and low set ears.

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Figure 2

. Alternating pattern of Intermittent exotropia of 40 prism diopters in Hirschberg test in (A) and (B).

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Figure 3

. Karyotype of the baby’s chromosome. The arrow points to the chromosome with the deletion in the short arm:46, XY, del (5) (p14).

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