Case Report
Two cases of Kabuki syndrome
Authors:
Cynthia Everett-Allen ,
Orthoptic Department, Worthing Hospital, Lyndhurst Road, Worthing, West Sussex BN11 2DH, GB
About Cynthia
DBO
Scot Wilton
Orthoptic Department, Worthing Hospital, Worthing, GB
About Scot
BSc
Abstract
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: http://doi.org/10.22599/bioj.219
Published on
01 Jan 2007.
Peer Reviewed
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