Kabuki syndrome: a review study of three hundred patients.
The Kabuki (make-up) syndrome identified in 1981 has been reported in more than three hundred patients. Typical findings include mild to moderate mental retardation, fetal pads, cleft palate, and characteristic facies with long palpebral fissures, everted lower lateral eyelids and arched eyebrows. Postnatal growth retardation, skeletal and visceral anomalies are present in a large percentage of patients. We review here the characteristics of this peculiar syndrome in three hundred patients.
Wessels
Marja W
MW
Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands. wessels@kgen.azr.nl
Brooks
Alice S
AS
Hoogeboom
Jeannette
J
Niermeijer
Martinus F
MF
Willems
Patrick J
PJ
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001842:Bone and Bones / Q000473:pathology; D003937:Diagnosis, Differential; D005138:Eyebrows / Q000002:abnormalities; D005143:Eyelids / Q000002:abnormalities; D019066:Facies; D005260:Female; D005298:Fertility; D005385:Fingers / Q000473:pathology; D006330:Heart Defects, Congenital / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability; D013577:Syndrome; D014564:Urogenital Abnormalities / Q000473:pathology