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.

PIRO E, PICCIONE M, DE SIMONE GF, CORSELLO G (2007). Oriental facial features, growth impairment, mental retardation, hypotonia, severe scoliosis, and precocious thelarche in females. THE ITALIAN JOURNAL OF PEDIATRICS, 33(3), 123-127.

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

PIRO, Ettore
;
PICCIONE, Maria;CORSELLO, Giovanni
2007-01-01

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.
2007
PIRO E, PICCIONE M, DE SIMONE GF, CORSELLO G (2007). Oriental facial features, growth impairment, mental retardation, hypotonia, severe scoliosis, and precocious thelarche in females. THE ITALIAN JOURNAL OF PEDIATRICS, 33(3), 123-127.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10447/12698
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