Liver fibrocystic disease and polydactyly: Proposal of a new syndrome

被引:3
作者
Esmer, C
Alvarez-Mendoza, A
Lieberman, E
Del Castillo, V
Ridaura-Sanz, C
机构
[1] Natl Inst Pediat, Dept Genet, Mexico City 04530, DF, Mexico
[2] Natl Inst Pediat, Dept Pathol, Mexico City 04530, DF, Mexico
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 2001年 / 101卷 / 01期
关键词
polydactyly; liver fibrocystic disease; congenital hepatic fibrosis; ductal plate abnormalities; Bardet-Biedl syndrome; Caroli disease;
D O I
10.1002/ajmg.1314
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Liver fibrocystic disease (LFCD), characterized by dilatation of the intrahepatic bile ducts and variable degree of fibrosis, can be present alone or as part of many syndromes, such as Bardet-Biedl syndrome (BBS), Meckel syndrome, Jeune asphyxiating thoracic dysplasia, and Fraser-Jequier-Chen syndrome, We report two cases of LFCD and polydactyly with features similar, but not diagnostic of, BBS, Patient 1 was an 18-month-old boy with mental retardation, polydactyly, chronic renal failure, convergent strabismus, and hepatic fibrosis, Patient 2 was a male neonate with LFCD and polydactyly. Their manifestations could not be diagnosed as any of the previous mentioned entities. Difficulties in the early diagnosis of BBS have been previously reported and this could explain the clinical variability and heterogeneity of manifestations at the time of diagnosis, On the other hand, the existence of liver abnormalities in association with BBS has been previously described, but is rare. Our patients' malformations might represent a new entity where autosomal recessive inheritance is probable, but other patterns cannot be ruled out, (C) 2001 Wiley-Liss, Inc.
引用
收藏
页码:12 / 16
页数:5
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