Liver transplantation in Ellis-van Creveld syndrome: a case report.
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.
Black
Dalliah
D
Division of Transplantation, Department of General Surgery, The University of North Carolina Hospital, Chapel Hill, North Carolina 27559, USA.
Reutter
Jason
J
Johnson
Mark
M
Fair
Jeffrey
J
Woosley
John
J
Gerber
David
D
D004613:Ellis-Van Creveld Syndrome / Q000473:pathology / Q000601:surgery*; D006801:Humans; D007231:Infant, Newborn; D016031:Liver Transplantation; D008297:Male