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EnglishKabuki'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.
| Data di pubblicazione: | 2007 | |
| Titolo: | Oriental facial features, growth impairment, mental retardation, hypotonia, severe scoliosis, and precocious thelarche in females. | |
| Autori: | ||
| Citazione: | 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. | |
| Rivista: | ||
| 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. | |
| Appare nelle tipologie: | 1.01 Articolo in rivista |
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