[Syndromal paucity of the interlobular bile ducts (Alagille's syndrome). A report of 2 Sicilian siblings]

Abstract

The authors describe a sister and brother [correction of two brothers] affected by syndromic paucity of interlobular bile ducts in which a marked heterogeneity in the beginning of symptoms puts serious difficulties in differential diagnosis. The evident similarity to the mother and the presence of hypertelorism support the hypothesis of a genetic inherited autosomal dominant disorder at variable penetration and expressivity.