[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.

Related Organizations

Rigshospitalet
Denmark

Keywords

Cleft Palate, Craniofacial Abnormalities, Diagnosis, Differential, Male, Rare Diseases, Child, Preschool, Humans, Abnormalities, Multiple, Syndrome, Psychomotor Disorders

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