Korean J Pediatr Gastroenterol Nutr.
2008 Mar;11(1):60-64.
A Case of Congenital Hepatic Fibrosis in Kabuki Syndrome
- Affiliations
-
- 1Department of Pediatrics, Keimyung University School of Medicine, Daegu, Korea. pedgi@korea.com
- 2Department of Radiology, Keimyung University School of Medicine, Daegu, Korea.
- 3Department of Pediatrics, Samsung Medical Center, Sungkyunkwan UniversitySchool of Medicine, Seoul, Korea.
- 4Department of Pathology, Samsung Medical Center, Sungkyunkwan UniversitySchool of Medicine, Seoul, Korea.
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 Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Two cases of congenital hepatic fibrosis
- Strabismus and Poor Stereoacuity Associated with Kabuki Syndrome
- A Case of Congenital Hepatic Fibrosis with Variceal Bleeding
- Phenotypic and Cytogenetic Delineation of Six Korean Children with Kabuki Syndrome
- The strong association of left-side heart anomalies with Kabuki syndrome
