A Case of Congenital Hepatic Fibrosis in Kabuki Syndrome / 대한소아소화기영양학회지
Korean Journal of Pediatric Gastroenterology and Nutrition
;
: 60-64, 2008.
Article
in Korean
| WPRIM
| ID: wpr-117714
ABSTRACT
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Abnormalities, Multiple
/
Biliary Atresia
/
Fibrosis
/
Cholangitis, Sclerosing
/
Vestibular Diseases
/
Cholestasis
/
Face
/
Hematologic Diseases
/
Intellectual Disability
Limits:
Humans
Language:
Korean
Journal:
Korean Journal of Pediatric Gastroenterology and Nutrition
Year:
2008
Type:
Article
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