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Reading: Two cases of Kabuki syndrome


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Case Report

Two cases of Kabuki syndrome


Cynthia Everett-Allen ,

Orthoptic Department, Worthing Hospital, Lyndhurst Road, Worthing, West Sussex BN11 2DH, GB
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Scot Wilton

Orthoptic Department, Worthing Hospital, Worthing, GB
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Aim: To describe two cases of Kabuki syndrome (KS) and the relevant signs which aid in the diagnosis.

Methods: The cases arc documented with details of history, orthoptic and ophthalmic findings and the criteria by which KS is identified.

Results: KS is rare. The five main criteria used to define the syndrome are characteristic facial features, skeletal anomalies, dermatoglyphic anomalies, men­tal retardation and short stature. Five facial features arc a key element in the diagnosis. Both children reported had the characteristic facial features. In addition they were of short stature, had hearing loss, learning difficulties, and speech and language pro­blems. Thirty to fifty per cent of children with KS will have ophthalmic involvement. One child pre­sented to the eve clinic with ocular problems; the other was seen via the child development team.

Conclusion: Ocular problems are common in chil­dren with KS and these children will present to orthoptic departments for assessment. It is important for orthoptists to he aware of this syndrome.

How to Cite: Everett-Allen, C. and Wilton, S., 2007. Two cases of Kabuki syndrome. British and Irish Orthoptic Journal, 4, pp.83–85. DOI:
Published on 01 Jan 2007.
Peer Reviewed


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