This case represents a rare association of Ellis-van Creveld (EvC) syndrome, a chondroectodermal disorder, with congenital paucity of bile ducts. Sequential liver biopsies during the patient's childhood demonstrated progressive fibrosis that can occur in other chondrodysplastic malformations. However, this EvC case is the first report to demonstrate paucity of intra-hepatic bile ducts progressing to cirrhosis and subsequently requiring transplant.
- Ellis-van Creveld syndrome
- Liver transplantation
- Paucity of intra-hepatic bile ducts
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health