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Oriental facial features, growth impairment, mental retardation, hypotonia, severe scoliosis, and precocious thelarche in females.

  • Autori: Piro, E.; Piccione, M.; DE SIMONE, G.; Corsello, G.
  • Anno di pubblicazione: 2007
  • Tipologia: Articolo in rivista (Articolo in rivista)
  • OA Link:


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.