Liver Fibrocystic Disease And Polydactyly

Esmer et al. (2001) described 2 patients with a combination of liver polycystic disease and polydactyly. One patient was an 18-month-old boy with mental retardation, polydactyly, chronic renal failure, convergent strabismus, and hepatic fibrosis. Postaxial polydactyly involved both the hands and the feet. The second patient was a male neonate with liver fibrocystic disease and polydactyly of all 4 extremities. The possibility of autosomal recessive inheritance was suggested because the parents of the second patient were third cousins. Although some features suggested Bardet-Biedl syndrome (209900), Meckel syndrome (249000), and some other conditions, Esmer et al. (2001) suggested that this association represents a distinct entity.