Kabuki's syndrome (KS), or Niikawa -Kuroki's syndrome, is a sporadic multiple congenital anomaly/mental retardation syndrome of unknown etiology. The clinical findings include a peculiar facial dysmorphism (oriental look), developmental delay, growth impairment, hypotonia, scoliosis, persistent fetal fingertip pads, overweight or obesity, hypodontia, heart defects, cleft palate and a variety of other structural defects. KS can present with a wide phenotypical and clinical spectrum that often makes diagnosis difficult.
|Number of pages||5|
|Journal||THE ITALIAN JOURNAL OF PEDIATRICS|
|Publication status||Published - 2007|
All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health