Liver fibrocystic disease and polydactyly: Proposal of a new syndrome

Liver fibrocystic disease (LFCD), characterized by dilatation of the intrah epatic bile ducts and variable degree of fibrosis, can be present alone or as part of many syndromes, such as Bardet-Biedl syndrome (BBS), Meckel synd rome, Jeune asphyxiating thoracic dysplasia, and Fraser-Jequier-Chen syndro me, 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 retar dation, polydactyly, chronic renal failure, convergent strabismus, and hepa tic fibrosis, Patient 2 was a male neonate with LFCD and polydactyly. Their manifestations could not be diagnosed as any of the previous mentioned ent ities. Difficulties in the early diagnosis of BBS have been previously repo rted and this could explain the clinical variability and heterogeneity of m anifestations 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 wher e autosomal recessive inheritance is probable, but other patterns cannot be ruled out, (C) 2001 Wiley-Liss, Inc.