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

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Abstract

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.
Lingua originaleEnglish
pagine (da-a)123-127
Numero di pagine5
RivistaTHE ITALIAN JOURNAL OF PEDIATRICS
Volume33
Stato di pubblicazionePublished - 2007

All Science Journal Classification (ASJC) codes

  • ???subjectarea.asjc.2700.2735???

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