Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features.
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.
Kluijt
I
I
Department of Clinical Genetics, Free University Hospital, Amsterdam, The Netherlands.
van Dorp
D B
DB
Kwee
M L
ML
Toutain
A
A
Keppler-Noreuil
K
K
Warburg
M
M
Bitoun
P
P
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