KMID : 0816120080110010060
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Korean Journal of Pediatric Gastroenterolology and Nutrition 2008 Volume.11 No. 1 p.60 ~ p.64
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A Case of Congenital Hepatic Fibrosis in Kabuki Syndrome
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Pakr Jae-Hyun
Chung Myung-Hwa Lee Hee-Jung Lee Jee-Hyun Choe Yon-Ho Song Sang-Yong Suh Yeon-Lim Hwang Jin-Bok
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Abstract
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Kabuki syndrome is characterized by peculiar facial features, developmental delay, and mental retardation. Congenital hepatic abnormalities in Kabuki syndrome patients have been sporadically reported in the literature and consist of extrahepatic biliary atresia, neonatal sclerosing cholangitis, and transient neonatal cholestasis. We report here a case of congenital hepatic fibrosis in a patient with Kabuki syndrome. To our knowledge, only one case of congenital hepatic fibrosis has been reported in the setting of Kabuki syndrome. (Korean J Pediatr Gastroenterol Nutr 2008; 11: 60¡64)
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KEYWORD
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Congenital hepatic fibrosis, Kabuki syndrome
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