Oriental facial features, growth impairment, mental retardation, hypotonia, severe scoliosis, and precocious thelarche in females.
- Authors: PIRO E; PICCIONE M; DE SIMONE GF; CORSELLO G
- Publication year: 2007
- Type: Articolo in rivista (Articolo in rivista)
- OA Link: http://hdl.handle.net/10447/12698
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.