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

Ocular Findings in Cri Du Chat Syndrome: A Case Report

• Kim SK
• Kim HS
• Kim SH

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.

Keyword

Cri du chat syndrome; Epicanthal folds; Exotropia; Hypertelorism; Telecanthus

MeSH Terms

Craniofacial Abnormalities
Cri-du-Chat Syndrome
Exotropia
Humans
Hypertelorism
Infant
Male
Optic Atrophy
Polyenes
Craniofacial Abnormalities
Polyenes

Figure

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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).

Reference

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