title: Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features.
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.
authors.affiliation: Department of Clinical Genetics, Free University Hospital, Amsterdam, The Netherlands.
authors.forename: I
authors.initials: I
authors.lastname: Kluijt
authors.forename: D B
authors.initials: DB
authors.lastname: van Dorp
authors.forename: M L
authors.initials: ML
authors.lastname: Kwee
authors.forename: A
authors.initials: A
authors.lastname: Toutain
authors.forename: K
authors.initials: K
authors.lastname: Keppler-Noreuil
authors.forename: M
authors.initials: M
authors.lastname: Warburg
authors.forename: P
authors.initials: P
authors.lastname: Bitoun
mesh_terms: D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities*; D002675:Child, Preschool; D003878:Dermatoglyphics; D005128:Eye Diseases / Q000150:complications*; D019066:Facies; D005260:Female; D006130:Growth Disorders / Q000150:complications*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D013577:Syndrome