Kabuki Syndrome (Kabuki Make – Up Syndrome, Niikawa Kuroki Syndrome)
Abstract
Kabuki syndrome is a congenital disorder of genetic origin with multiple malformation syndrome characterized by distinctive facial features, heart defects, intellectual disability, postnatal growth deficiency and behavior abnormalities. It is suspected to be a single gene , Autosomal Dominant disorder(1). (2),(3)
We present the clinical features, developmental evaluation and the genetic findings of a child with Kabuki syndrome
Keywords: Kabuki Syndrome , Dysmorphism, Delayed Milestones
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