[Kabuki syndrome].
A clinical case of the rare Kabuki syndrome is described in a 2-year-old boy. At the time of birth he was diagnosed with cleft palate and from the age of six months he presented with unusual facial features and slow psychomotoric development. At the age of two he has no language and only minimal speech perception and is showing signs of growth retardation.
Petersen
Rikke Børthy
RB
Rigshospitalet, Afdeling for Plastikkirurgi og Brandsårsbehandling, Denmark. Rikkebp55@hotmail.com
Lindholm
Pernille
P
Bonde
Christian T
CT
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002675:Child, Preschool; D002972:Cleft Palate / Q000175:diagnosis; D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D011596:Psychomotor Disorders / Q000175:diagnosis; D035583:Rare Diseases / Q000175:diagnosis; D013577:Syndrome