[Syndromal paucity of the interlobular bile ducts (Alagille's syndrome). A report of 2 Sicilian siblings].
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.
Leonardi
S
S
Cattedra di Pediatria Preventiva e Sociale-Università di Catania, Italia.
Arcidiacono
G
G
Ferlito
G
G
Musumeci
S
S
D016738:Alagille Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D002648:Child; D005260:Female; D006801:Humans; D007223:Infant; D008099:Liver / Q000473:pathology; D008297:Male; D012802:Sicily
Paucità sindromica delle vie biliari interlobulari (sindrome di Alagille). Descrizione di due fratelli siciliani.