Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features

I Kluijt; D B van Dorp; M L Kwee; A Toutain; K Keppler-Noreuil; M Warburg; P Bitoun

Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features

Ophthalmic Genet. 2000 Mar;21(1):51-61.

Authors

I Kluijt¹, D B van Dorp, M L Kwee, A Toutain, K Keppler-Noreuil, M Warburg, P Bitoun

Affiliation

¹ Department of Clinical Genetics, Free University Hospital, Amsterdam, The Netherlands.

PMID: 10779849

Abstract

Six cases of Kabuki syndrome (KS) with ocular anomalies are reported and the variety of ocular features reported in the literature for this syndrome is described. Routine ocular examinations are recommended for every patient with KS because of the high proportion of ocular anomalies found in these patients, the presence of which can hamper development if not adequately addressed.

Publication types

Case Reports
Review

MeSH terms

Adolescent
Bone and Bones / abnormalities*
Child, Preschool
Dermatoglyphics*
Eye Diseases / complications*
Facies*
Female
Growth Disorders / complications*
Humans
Infant
Intellectual Disability / complications*
Male
Syndrome