Liver transplantation in Ellis-van Creveld syndrome: A case report

被引：5
作者：
Black, D
Reutter, J
Johnson, M
Fair, J
Woosley, J
Gerber, D
机构：
[1] Univ N Carolina Hosp, Dept Gen Surg, Div Transplantat, Chapel Hill, NC 27599 USA
[2] Univ N Carolina Hosp, Dept Pathol, Chapel Hill, NC USA
来源：
PEDIATRIC TRANSPLANTATION | 2002年 / 6卷 / 03期
关键词：
Ellis-van Creveld syndrome; liver transplantation; paucity of intra-hepatic bile ducts;
D O I：
10.1034/j.1399-3046.2002.01085.x
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
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.
引用
收藏
页码：255 / 259
页数：5
相关论文
共 13 条
  • [1] CHONDROECTODERMAL DYSPLASIA (ELLIS-VAN CREVELD SYNDROME) WITH DYSPLASIA OF RENAL MEDULLA AND BILE-DUCTS
    BOHM, N
    FUKUDA, M
    STAUDT, R
    HELWIG, H
    [J]. HISTOPATHOLOGY, 1978, 2 (04) : 267 - 281
  • [2] ELLIS-VANCREVELD SYNDROME, JEUNE SYNDROME, AND RENAL-HEPATIC-PANCREATIC DYSPLASIA - SEPARATE ENTITIES OR DISEASE SPECTRUM
    BRUETON, LA
    DILLON, MJ
    WINTER, RM
    [J]. JOURNAL OF MEDICAL GENETICS, 1990, 27 (04) : 252 - 255
  • [3] ELLIS RICHARD W. B., 1940, ARCH DIS CHILDHOOD [LONDON], V15, P65
  • [4] THORACIC ASPHYXIANT DYSTROPHY AND RENAL DISEASE
    HERDMAN, RC
    LANGER, LO
    [J]. AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1968, 116 (02): : 192 - &
  • [5] Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus
    Howard, TD
    Guttmacher, AE
    McKinnon, W
    Sharma, M
    McKusick, VA
    Jabs, EW
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (06) : 1405 - 1412
  • [6] EARLY CIRRHOSIS IN SURVIVORS WITH JEUNE THORACIC DYSTROPHY
    HUDGINS, L
    ROSENGREN, S
    TREEM, W
    HYAMS, J
    [J]. JOURNAL OF PEDIATRICS, 1992, 120 (05) : 754 - 756
  • [7] Labrune P, 1999, AM J MED GENET, V87, P324, DOI 10.1002/(SICI)1096-8628(19991203)87:4<324::AID-AJMG8>3.0.CO
  • [8] 2-U
  • [9] Nephronophthisis associated with Ellis-van Creveld syndrome
    Moudgil, A
    Bagga, A
    Kamil, ES
    Rimoin, DL
    Lachman, RS
    Cohen, AH
    Jordan, SC
    [J]. PEDIATRIC NEPHROLOGY, 1998, 12 (01) : 20 - 22
  • [10] ASPHYXIATING THORACIC DYSPLASIA - CLINICAL, RADIOLOGICAL, AND PATHOLOGICAL INFORMATION ON 10 PATIENTS
    OBERKLAID, F
    DANKS, DM
    MAYNE, V
    CAMPBELL, P
    [J]. ARCHIVES OF DISEASE IN CHILDHOOD, 1977, 52 (10) : 758 - 765
12