A Case of Congenital Hepatic Fibrosis in Kabuki Syndrome / 대한소아소화기영양학회지
Korean Journal of Pediatric Gastroenterology and Nutrition
; : 60-64, 2008.
Article
em Ko
| WPRIM
| ID: wpr-117714
Biblioteca responsável:
WPRO
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.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Anormalidades Múltiplas
/
Atresia Biliar
/
Fibrose
/
Colangite Esclerosante
/
Doenças Vestibulares
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Colestase
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Face
/
Doenças Hematológicas
/
Deficiência Intelectual
Limite:
Humans
Idioma:
Ko
Revista:
Korean Journal of Pediatric Gastroenterology and Nutrition
Ano de publicação:
2008
Tipo de documento:
Article